Search

Your search keyword '"Sue Price"' showing total 48 results
Start Over Author "Sue Price"
48 results on '"Sue Price"'

5. Client-centred therapeutic relationship conditions and authenticity: a prospective study

Author

David Murphy, Sue Price, Cecelia Bayliss-Conway, and Stephen Joseph

Subjects
Positive Psychology, 050103 clinical psychology, Therapeutic Alliance, Client centred, Association (object-oriented programming), 05 social sciences, Authenticity Scale, Education, Therapeutic relationship, Barrett-Lennard Relationship Inventory, 050106 general psychology & cognitive sciences, Arts and Humanities (miscellaneous), Relational Depth Inventory, 0501 psychology and cognitive sciences, Positive psychology, Psychology, Prospective cohort study, Applied Psychology, Clinical psychology
Abstract

The aim was to investigate the association between experiencing a therapeutic relationship and subsequent authenticity. Forty-six clients completed the Barrett-Lennard Relationship Inventory (B-LRI, 1968), Relational Depth Inventory (RDI, Wiggins, Elliott, & Cooper, 2012), a measure of the therapeutic alliance (ARM-5, Agnew-Davies et al, 1998) and the Authenticity Scale (AS: Wood et al, 2008) at intervals over ten therapy sessions. Higher scores on the B-LRI at sessions three, five and ten were associated with an increase in authenticity over the ten sessions. These results provide some initial evidence in support of Rogers’ (1957) theory that it is the conditions of the therapeutic relationship that leads to greater authenticity.

Published
2020
Full Text
View/download PDF

6. Reviewer Acknowledgements

Author

Ebrahim Adam, Anand Agrawal, Abdulbaqi Badru, Lorraine Bennett, Nirmal Kumar Betchoo, Giovanna Carloni, Leela Cejnar, Dusty-Lee Donnelly, Sydney Engelberg, Neil Davies Evans, Mohammad Rishad Faridi, Karen Ferreira-Meyers, Kapil Mohan Garg, Roshni Gokool, Albert Haddad, Violeta Holmes, Mitchell Hughes, Pratima Khandelwal, Gabriel Konayuma, Greig Krull, Carol Cirulli Lanham, Renée LeClair, David Lewis, Yuzhu Li, Manoj Maharaj, Suriamurthee Moonsamy Maistry, Vusumuzi Maphosa, Mudaray Marimuthu, Hope Rabson Mauwa, Kerry McCullough, Kiveshni Naidoo, Nga Thanh Nguyen, Bomi Nomlala, Melissa Pacheco, Satyanarayana Parayitam, Ameena Leah Payne, Shamola Pramjeeth, Catherine Sue Price, Marlia Puteh, Rosemary Diane Quilling, Rushil Raghavjee, Anuradha Samkham Raju, Subheer Ramnoruth, Aradhana Ramnund-Mansingh, Loovesh Sharma Ramwodin, Lorayne Robertson, Jennifer Scott, Shikha Sharma, Sandra Shea, Shawren Singh, Adriana Aletta Steyn, Nita Sukdeo, Kaviraj Sukon, Rahul Thakkar, Lynette Thompson, Martin Mabeifam Ujakpa, André van der Westhuizen, Gounshali Vaghjee, Havisha Vaghjee, Elisabeth Valiente-Riedl, Eurika Jansen van Vuuren, Brenda Van Wyk, Rupert Ward, and Rashmi Watson

Published
2022
Full Text
View/download PDF

7. The positive psychology of relational depth and its association with unconditional positive self-regard and authenticity

Author

Stephen Joseph, Jiyea Kim, and Sue Price

Subjects
050103 clinical psychology, media_common.quotation_subject, 05 social sciences, 050109 social psychology, Person centered, Therapeutic relationship, Psychiatry and Mental health, Clinical Psychology, Feeling, Developmental and Educational Psychology, 0501 psychology and cognitive sciences, Positive psychology, Psychology, Social psychology, media_common
Abstract

© 2020 World Association for Person-Centered & Experiential Psychotherapy & Counseling. Relational depth (RD) refers to moments in a therapeutic relationship in which a person has feelings of aliveness, satisfaction and immersion. However, no research has yet tested for the association between RD and concepts closely aligned with Carl Rogers’ hypothesis of how people change in a growth-promoting relationship. In this study, 55 therapy clients completed the relational depth inventory (RDI), the unconditional positive self-regard scale (UPSR) and the authenticity scale (AS). It was found that higher scores on the RDI were associated with higher scores on the UPSR and the AS. These results provide initial evidence for the growth-promoting effects of RD. Further prospective research is now warranted.

Published
2020
Full Text
View/download PDF

8. Further delineation of Malan syndrome

Author

Ann Sophie Kaiser, Fowzan S. Alkuraya, Trevor Cole, Paul A. Mulder, Pablo Lapunzina, Inge B. Mathijssen, Jan Liebelt, Claire G. Salter, Pierre Sarda, Jill A. Fahrner, Manuela Priolo, Dorothee Neubauer, Nursel Elcioglu, Denny Schanze, Katrin Tatton-Brown, Sarah F. Smithson, Jair Tenorio, Thomas E. Neumann, Charles Shaw-Smith, Letizia Pintomalli, Shane McKee, Emilia K. Bijlsma, Sally J. Davies, Sue Price, Rajesh V. Thakker, Noelia García González, Rita Valdez, Sally Ann Lynch, Nataliya Di Donato, Arie van Haeringen, Astrid S. Plomp, Inés Hernández Acero, Ilka Huber, Marcela Zollino, Laura Bernardini, Raoul C.M. Hennekam, Martin Zenker, Mohnish Suri, Mabel Segovia, Johanna M. van Hagen, Ghayda Mirzaa, Leonie A. Menke, Kreepa Kooblall, Arveen Kamath, Christine Coubes, I. Dapia, Corrado Mammì, Alison Foster, Tara Montgomery, Pedro Arias, Fernando Santos-Simarro, Maria Iascone, Maria Antonietta Pisanti, Saskia M. Maas, ANS - Cellular & Molecular Mechanisms, Graduate School, ARD - Amsterdam Reproduction and Development, Human Genetics, Paediatric Genetics, General Paediatrics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Human genetics, and Pediatric surgery

Subjects
0301 basic medicine, Male, Pediatrics, Developmental Disabilities, phenotype-genotype, Craniofacial Abnormalities, Epilepsy, Marshall–Smith syndrome, Septo-Optic Dysplasia, Intellectual disability, Child, Genetics (clinical), Research Articles, biology, Sotos syndrome, Exons, NFIX, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Hand Deformities, Congenital, Research Article, Adult, medicine.medical_specialty, Prominent forehead, phenotype‐genotype, Adolescent, phenotype, Mutation, Missense, 03 medical and health sciences, Young Adult, Intellectual Disability, Genetics, medicine, Congenital Hypothyroidism, Humans, Abnormalities, Multiple, Malan syndrome, Weaver syndrome, Bone Diseases, Developmental, Macrocephaly, medicine.disease, Marshall-Smith syndrome, Megalencephaly, NFI Transcription Factors, 030104 developmental biology, Marshall‐Smith syndrome, biology.protein
Abstract

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. This article is protected by copyright.

Published
2018
Full Text
View/download PDF

9. Extending the phenotype associated with the CSNK2A1‐ related Okur–Chung syndrome—A clinical study of 11 individuals

Author

Ceris I, Owen, Ramsay, Bowden, Michael J, Parker, Jo, Patterson, Joan, Patterson, Sue, Price, Ajoy, Sarkar, Bruce, Castle, Charulatha, Deshpande, Miranda, Splitt, Neeti, Ghali, John, Dean, Andrew J, Green, Charlene, Crosby, and Katrina, Tatton-Brown

Subjects
Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Heart malformation, Amino Acid Motifs, Clinical study, 03 medical and health sciences, Swallowing, Protein kinase CK2, Intellectual disability, Genetics, medicine, Humans, Protein Interaction Domains and Motifs, Amino Acid Sequence, Casein Kinase II, Child, Alleles, Genetics (clinical), Exome sequencing, business.industry, Facies, Exons, medicine.disease, Phenotype, Hypotonia, 3. Good health, 030104 developmental biology, Amino Acid Substitution, Neurodevelopmental Disorders, Mutation, Female, medicine.symptom, business, Protein Binding
Abstract

Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur-Chung neurodevelopmental syndrome. More recently, through trio-based exome sequencing undertaken by the Deciphering Developmental Disorders Study (DDD study), a further 11 children with de novo CSNK2A1 variants have been identified. We have undertaken detailed phenotyping of these patients. Consistent with previously reported patients, patients in this series had apparent intellectual disability, swallowing difficulties, and hypotonia. While there are some shared facial characteristics, the gestalt is neither consistent nor readily recognized. Congenital heart abnormalities were identified in nearly 30% of the patients, representing a newly recognized CSNK2A1 clinical association. Based upon the clinical findings from this study and the previously reported patients, we suggest an initial approach to the management of patients with this recently described intellectual disability syndrome.

Published
2018
Full Text
View/download PDF

10. Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Author

Inge B. Mathijssen, Claire G. Salter, J M van Hagen, Tara Montgomery, Manuela Priolo, T. E. Neumann, Charles Shaw-Smith, I. H. Acero, Raoul C.M. Hennekam, L. Pintomalli, Fernando Santos-Simarro, Christine Coubes, Maria Iascone, Leonie A. Menke, Nursel Elcioglu, M. Zollino, Ghayda M. Mirzaa, Shane McKee, Rajesh V. Thakker, S. Piening, I. Dapia, C. Mammì, Arveen Kamath, Jair Tenorio, Emilia K. Bijlsma, Pierre Sarda, W. W. Dunn, Denny Schanze, Paul A. Mulder, Pablo Lapunzina, Martin Zenker, A. van Haeringen, Laura Bernardini, Jan Liebelt, N. Di Donato, Dorothee Neubauer, Jill A. Fahrner, Alison Foster, Sally Ann Lynch, Sue Price, A. M. Landlust, Sally J. Davies, N. G. González, I. Huber, Rita Valdez, I. D. C. van Balkom, Maria Antonietta Pisanti, Saskia M. Maas, Sarah F. Smithson, Pedro Arias, Mohnish Suri, Mabel Segovia, Kreepa Kooblall, Katrina Tatton-Brown, Trevor Cole, A. S. Plomp, Ann Sophie Kaiser, Fowzan S. Alkuraya, Pediatric surgery, Human genetics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C., Graduate School, ANS - Cellular & Molecular Mechanisms, General Paediatrics, ARD - Amsterdam Reproduction and Development, and Human Genetics

Subjects
cognition, Male, 030506 rehabilitation, Marshall–Smith syndrome, medicine.medical_treatment, CHILDREN, Comorbidity, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Quality of life, Septo-Optic Dysplasia, Intellectual disability, Adaptation, Psychological, sensory processing, Child, Netherlands, biology, Mental Disorders, 05 social sciences, Rehabilitation, Cognition, SOTOS-LIKE, Syndrome, NFIX, Psychiatry and Mental health, Phenotype, Neurology, adaptive behaviour, Child, Preschool, NFIX variants, Female, 0305 other medical science, Psychology, 050104 developmental & child psychology, Clinical psychology, Adult, Sensory processing, Adolescent, Challenging behaviour, NFIXvariants, Context (language use), AUTISTIC DISORDER, Speech Disorders, Article, 03 medical and health sciences, Young Adult, Arts and Humanities (miscellaneous), Intellectual Disability, medicine, Humans, 0501 psychology and cognitive sciences, Abnormalities, Multiple, Malan syndrome, Bone Diseases, Developmental, ADULTS, medicine.disease, Marshall-Smith syndrome, Cross-Sectional Studies, biology.protein, PATTERNS, Neurology (clinical), Follow-Up Studies
Abstract

BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. METHODS: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. RESULTS: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall-Smith syndrome shows different individual learning curves over time. CONCLUSIONS: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.

Published
2019
Full Text
View/download PDF

11. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Author

Anne H. O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A. Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Demurger, James J. Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F. Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M. Maas, Gustavo H.B. Maegawa, Carlo L.M. Marcelis, Paul R. Mark, Marcelo R. Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L.P. Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Helio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton-Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Department of Medicine 1, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Center for Medical Genetics, Istituto di Scienze e Tecnologie della Cognizione, Consiglio Nazionale delle Ricerche (ISTC, CNR), Istituto di Scienze e Tecnologie della Cognizione, Station biologique de Roscoff [Roscoff] (SBR), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique médicale [Centre Hospitalier de Vannes], Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Department of Pediatrics, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, Centre de Génétique Chromosomique [Hôpital Saint Vincent de Paul], Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Institute of Human Genetics, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Helmholtz Zentrum München = German Research Center for Environmental Health, Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Children’s Hospital of Philadelphia (CHOP ), Service de Génétique Médicale, Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Public Health Sciences, Karolinska Institutet [Stockholm], Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), Università degli Studi di Camerino = University of Camerino (UNICAM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University of Oxford, GeneDx [Gaithersburg, MD, USA], Department of Clinical Genetics (Academic Medical Center, University of Amsterdam), VU University Medical Center [Amsterdam], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Clinical Genetics, Aarhus University Hospital, Boston Children's Hospital, Wellcome Trust Genome Campus, The Wellcome Trust Sanger Institute [Cambridge], Institute of Biomedical Engineering [Oxford] (IBME), Climatic Research Unit, University of East Anglia [Norwich] (UEA), Imperial College London, St Mary's Hospital, East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital, Sheffield Children's NHS Foundation Trust, Regional Genetic Service, St Mary's Hospital, Manchester, Genetics, University of Southampton, Great Ormond Street Hospital for Children [London] (GOSH), Yorkshire Regional Clinical Genetics Service, Chapel Allerton Hospital, Molecular and Clinical Medicine [Dundee, UK] (School of Medicine), University of Dundee [UK]-Ninewells Hospital & Medical School [Dundee, UK], Department of Clinical Genetics, Oxford Regional Genetics Service, The Churchill hospital, North West Thames Regional Genetics, Northwick Park Hospital, Royal Devon & Exeter Hospital, Wessex Clinical Genetics Service, Wessex clinical genetics service, Manchester University NHS Foundation Trust (MFT), West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Our Lady's hospital for Sick Children, Our Lady's Hospital for Sick Children, Guy's Hospital [London], University Hospitals Leicester, University of Edinburgh, Belfast City Hospital, Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Institute of Medical Genetics, Heath Park, Cardiff, The London Clinic, Nottingham City Hospital, Clinical Genetics Department, St Michael's Hospital, Department of Genetic Medicine, Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust (NUH), Royal Devon and Exeter Foundation Trust, Histopathology, St. George's Hospital, Teesside Genetics Unit, James Cook University (JCU), Kansas State University, Liverpool Women's NHS Foundation Trust, Department of Medical Genetics, HMNC Brain Health, North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, Leicester Royal Infirmary, University Hospitals Leicester-University Hospitals Leicester, Ninewells Hospital and Medical School [Dundee], Academic Centre on Rare Diseases (ACoRD), University College Dublin [Dublin] (UCD), Oxford Brookes University, Institute of medicinal plant development, Chinese Academy of Medical Sciences, Newcastle Upon Tyne Hospitals NHS Trust, Service d'explorations fonctionnelles respiratoires [Lille], Department of Computer Science - Trinity College Dublin, University of Dublin, Department of Clinical Genetics (Sheffield Children’s NHS Foundation Trust), Division of Medical & Molecular Genetics, NHS Greater Glasgow & Clyde [Glasgow] (NHSGGC), Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, Weizmann Institute of Science [Rehovot, Israël], Southampton General Hospital, Western General Hospital, Head of the Department of Medical Genetics, University of Birmingham [Birmingham], SW Thames Regional Genetics Service, St Georgeâ™s University of London, London, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), All Wales Medical Genetics Services, Singleton Hospital, Central Manchester University Hospitals NHS Foundation Trust, University of North Texas (UNT), Clinical Genetics, Northern Genetics Service, Newcastle University [Newcastle], United Kingdom Met Office [Exeter], Institute of Medical Genetics (University Hospital of Wales), University Hospital of Wales (UHW), West Midlands Regional Genetics Laboratory and Clinical Genetics Unit, Birmingham Women's Hospital, Laboratory of Molecular Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Department of Genetics, Cell- and Immunobiology, Semmelweis University, University Hospitals Bristol, Marketing (MKT), EESC-GEM Grenoble Ecole de Management, Addenbrookes Hospital, West of Scotland Genetics Service (Queen Elizabeth University Hospital), University Hospital Birmingham Queen Elizabeth, Department of Clnical Genetics, Chapel Allerton Hospital, Department of Clinical Genetics, Northampton General Hospital, Northampton, Royal Devon and Exeter Hospital [Exeter, UK] (RDEH), Guy's and St Thomas' Hospital [London], School of Computer Science, Bangor University, University Hospital Southampton, Clinical Genetics Unit, St Georges, University of London, Medical Genetics, Cardiff University, Research and Development, Futurelab, Nottingham Regional Genetics Service [Nottingham, UK], Nottingham University Hospitals NHS Trust (NUH)-City Hospital Campus [Nottingham, UK], University of St Andrews [Scotland], Clinical Genetics Service, Nottingham University Hospitals NHS Trust - City Hospital Campus, West Midlands Regional Genetics Unit, Department of Neurology, Johns Hopkins University (JHU), Oxford University Hospitals NHS Trust, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Addenbrooke's Hospital, Cambridge University NHS Trust, Institute of Human Genetics, Newcastle, Division of Biological Stress Response [Amsterdam, The Netherlands], The Netherlands Cancer Institute [Amsterdam, The Netherlands], Johns Hopkins Bloomberg School of Public Health [Baltimore], Birmingham Women’s Hospital, Department of Genetics, Portuguese Oncology Institute, Molecular Genetics, IWK Health Centre, IWK health centre, North West london hospitals NHS Trust, Department of Clinical Genetics (Queen Elizabeth University Hospital, Glasgow), Queen Elizabeth University Hospital (Glasgow), Birmingham women's hospital, Birmingham, Ethox Centre, Department of Public Health and Primary Health Care, University of Oxford, Badenoch Building, Old Road Campus, Headington, R01 HD091846, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, National Institutes of Health’s National Institute of Child Health and Human Development, Boston Children’s Hospital Faculty Development Fellowship, UM1HG008900, Broad Center for Mendelian Genomics, Chile’s National Commission for Scientific and Technological Research, DFG WE4896/3-1, German Research Society, WT 100127, Health Innovation Challenge Fund, Comprehensive Clinical Research Network, Skaggs-Oxford Scholarship, 10/H0305/83, Cambridge South REC, REC GEN/284/12, Republic of Ireland, WT098051, Wellcome Sanger Institute, 72160007, Comisión Nacional de Investigación Científica y Tecnológica, Children's Hospital of Philadelphia, Technische Universität Kaiserslautern, 1DH1813319, Dietmar Hopp Stiftung, National Institute for Health Research, Department of Health & Social Care, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Hôpital Saint Vincent de Paul-GHICL, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Helmholtz-Zentrum München (HZM)-German Research Center for Environmental Health, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli Studi di Camerino (UNICAM), University of Oxford [Oxford], Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Nottingham University Hospitals NHS Trust, Nottingham University Hospitals, SW Thames Regional Genetics Service, St George’s University of London, London, University Hospital of Wales, Grenoble Ecole de Management, Royal Devon and Exeter Hospital, City Hospital Campus [Nottingham, UK]-Nottingham University Hospitals NHS Trust [UK], ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], GHICL-Hôpital Saint Vincent de Paul, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Friedrich-Alexander d'Erlangen-Nuremberg, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Bretagne Atlantique [Vannes], Technische Universität München [München] (TUM)-Helmholtz-Zentrum München (HZM)-German Research Center for Environmental Health, Service de Génétique et Cytogénétique [CHU Pitié-Salpêtrière], University of Zürich [Zürich] (UZH), Università di Camerino (UNICAM), Birmingham Women's Hospital Healthcare NHS Trust, University Hospitals of Leicester, Sheffield Children’s Hospital, Weizmann Institute of Science, and Grenoble Ecole de Management (GEM)

Subjects
0301 basic medicine, Male, Microcephaly, [SDV]Life Sciences [q-bio], Haploinsufficiency, autism, epilepsy, epileptic encephalopathy, global developmental delay, H3K4 methylation, intellectual disability, KMT2E, neurodevelopmental disorder, Adolescent, Adult, Child, Child, Preschool, DNA-Binding Proteins, Epilepsy, Female, Humans, Infant, Neurodevelopmental Disorders, Pedigree, Phenotype, Young Adult, Genetic Variation, Heterozygote, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Global developmental delay, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Genetics, 0303 health sciences, Hypotonia, 030220 oncology & carcinogenesis, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], 03 medical and health sciences, Report, medicine, Journal Article, Expressivity (genetics), Preschool, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Macrocephaly, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism, business, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 206572.pdf (Publisher’s version ) (Open Access) We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities.

Published
2019
Full Text
View/download PDF

12. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Author

Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J. Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit M. Pressler, Michael A. Simpson, Geoff D. Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, John J. Millichap, Gemma L. Carvill, Jill Clayton-Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Saeed Al Turki, Carl Anderson, Richard Anney, Dinu Antony, Maria Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Aaron Day-Williams, Ian N.M. Day, Thomas Down, Yuanping Du, Ian Dunham, Sarah Edkins, Peter Ellis, David Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David R. Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Matthias Geihs, Daniel Geschwind, Heather Griffin, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey Hendricks, Peter Holmans, Bryan Howie, Liren Huang, Tim Hubbard, Steve E. Humphries, Pirro Hysi, David K. Jackson, Yalda Jamshidi, Tian Jing, Chris Joyce, Jane Kaye, Thomas Keane, Julia Keogh, John Kemp, Karen Kennedy, Anja Kolb-Kokocinski, Genevieve Lachance, Cordelia Langford, Daniel Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Hong Lin, Rui Li, Yingrui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Iotchkova, Daniel MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Peter McGuffin, Andrew McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Hannah Mitchison, Alireza Moayyeri, James Morris, Francesco Muntoni, Kate Northstone, Michael O'Donnovan, Alexandros Onoufriadis, Stephen O'Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy R. Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Olli Pietilainen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Karola Rehnström, Susan Ring, Graham R.S. Ritchie, Nicola Roberts, David B. Savage, Peter Scambler, Stephen Schiffels, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Sally I. Sharp, So-Youn Shin, David Skuse, Kerrin Small, Lorraine Southam, Olivera Spasic-Boskovic, David St Clair, Jim Stalker, Elizabeth Stevens, Beate St Pourcian, Jianping Sun, Jaana Suvisaari, Ionna Tachmazidou, Martin D. Tobin, Ana Valdes, Margriet Van Kogelenberg, Peter M. Visscher, Louise V. Wain, James T.R. Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Elanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Kim Wong, ChangJiang Xu, Jian Yang, Fend Zhang, Pingbo Zhang, Timothy Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Jenny Carmichael, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise Daugherty, Sophie Davies, John Davis, Minka De Vries, Patrick Deegan, Sri V.V. Deevi, Lisa Devlin, Eleanor Dewhurst, Rainer Doffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Remi Favier, Helen Firth, Debra Fletcher, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel Gale, Alice Gardham, Michael Gattens, Pavandeep K. Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour, Paul Gissen, Sarah Goddard, Keith Gomez, Pavel Gordins, Stefan Gräf, Daniel Greene, Alan Greenhalgh, Andreas Greinacher, Sofia Grigoriadou, Scott Hackett, Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, Grant Hayman, Johan W.M. Heemskerk, Robert Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Roger James, Stephen Jolles, Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Fiona Kennedy, David Kiely, Nathalie Kingston, Ania Koziell, Deepa Krishnakumar, Taco W. Kuijpers, Dinakantha Kumararatne, Manju Kurian, Michael A. Laffan, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, Sara Lear, Claire Lentaigne, Ri Liesner, Rachel Linger, Hilary Longhurst, Lorena Lorenzo, Rajiv Machado, Rob Mackenzie, Robert MacLaren, Eamonn Maher, Jesmeen Maimaris, Sarah Mangles, Ania Manson, Rutendo Mapeta, Hugh S. Markus, Jennifer Martin, Larahmie Masati, Mary Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Megy, Michel Michaelides, Carolyn M. Millar, Shahin Moledina, Anthony Moore, Nicholas Morrell, Andrew Mumford, Sai Murng, Elaine Murphy, Sergey Nejentsev, Sadia Noorani, Paquita Nurden, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Alasdair Parker, John Pasi, Chris Patch, Jeanette Payne, Andrew Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke-Zaba, David J. Perry, Val Pollock, Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew Rondina, Catherine Roughley, Kevin Rue-Albrecht, Crina Samarghitean, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Marie Scully, Suranjith Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth Smith, Aman Sohal, Laura Southgate, Simon Staines, Emily Staples, Hans Stauss, Penelope Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson, Adrian Thrasher, Catherine Titterton, Cheng-Hock Toh, Mark Toshner, Carmen Treacy, Richard Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Ivy Wanjiku, Timothy Q. Warner, Hugh Watkins, Andrew Webster, Steve Welch, Sarah Westbury, John Wharton, Deborah Whitehorn, Martin Wilkins, Lisa Willcocks, Catherine Williamson, Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pediatric surgery, APH - Aging & Later Life, Molecular cell biology and Immunology, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, and APH - Quality of Care

Subjects
0301 basic medicine, Male, Adolescent, Loss of Heterozygosity, Context (language use), Postnatal microcephaly, Neurotransmission, medicine.disease_cause, Bioinformatics, Synaptic Transmission, Loss of heterozygosity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Calcium Channels, N-Type, Report, Genetics, medicine, Humans, Child, Genetics (clinical), Mutation, Dyskinesias, business.industry, Infant, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Dyskinesia, Child, Preschool, Calcium, Female, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

© 2019 American Society of Human Genetics The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.

Published
2018
Full Text
View/download PDF

13. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Author

Víctor Faundes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton-Smith, Bruno Dallapiccola, Sally J. Davies, Michelle K. Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael J. Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, V.K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, and Matthew E. . Hurles

Subjects
0301 basic medicine, ASH1L, Male, Methyltransferase, Adolescent, Histone lysine methylation, KMT5B, Developmental Disabilities, Haploinsufficiency, Biology, Compound heterozygosity, histone lysine methyltransferase, Chromatin remodeling, chromatin remodeling, 03 medical and health sciences, histone lysine demethylase, Report, Genetics, Humans, Child, Genetics (clinical), Regulation of gene expression, Histone Demethylases, Developmental disorders, KMT2C, KMT2B, Histone-Lysine N-Methyltransferase, 030104 developmental biology, Histone, Overgrowth syndrome, Child, Preschool, Mutation, biology.protein, KDM5B, Female
Abstract

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existing animal models, we determine 22 KMTs and KDMs as additional candidates for dominantly inherited developmental disorders. We show that KMTs and KDMs that are associated with, or are candidates for, dominant developmental disorders tend to have a higher level of transcription, longer canonical transcripts, more interactors, and a higher number and more types of post-translational modifications than other KMT and KDMs. We provide evidence to firmly associate KMT2C, ASH1L, and KMT5B haploinsufficiency with dominant developmental disorders. Whereas KMT2C or ASH1L haploinsufficiency results in a predominantly neurodevelopmental phenotype with occasional physical anomalies, KMT5B mutations cause an overgrowth syndrome with intellectual disability. We further expand the phenotypic spectrum of KMT2B-related disorders and show that some individuals can have severe developmental delay without dystonia at least until mid-childhood. Additionally, we describe a recessive histone lysine-methylation defect caused by homozygous or compound heterozygous KDM5B variants and resulting in a recognizable syndrome with developmental delay, facial dysmorphism, and camptodactyly. Collectively, these results emphasize the significance of histone lysine methylation in normal human development and the importance of this process in human developmental disorders. Our results demonstrate that systematic clinically oriented pathway-based analysis of genomic data can accelerate the discovery of rare genetic disorders.

Published
2017
Full Text
View/download PDF

14. Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

Author

Andrea C. Yu, Regina M. Zambrano, Birgitta Bernhard, Jean McGowan-Jordan, Christine M. Armour, Sue Price, Ingrid Cristian, Marc Zucker, and Sunita Venkateswaran

Subjects
0301 basic medicine, Male, Monosomy, Pediatrics, medicine.medical_specialty, Microcephaly, Prominent forehead, DNA Copy Number Variations, Developmental Disabilities, Craniosynostosis, LFNG, 03 medical and health sciences, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), business.industry, Infant, Microdeletion syndrome, medicine.disease, Hypotonia, 030104 developmental biology, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, business, Chromosomes, Human, Pair 7
Abstract

Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows. Additional variable features amongst the patients included microcephaly, metopic ridging or craniosynostosis, cleft palate, cardiac defects, and mild hypotonia. Although the patients’ deletions varied in size, there was a 0.47 Mb region of overlap which contained 7 OMIM genes: EIP3B, CHST12, LFNG, BRAT1, TTYH3, AMZ1, and GNA12. We propose that monosomy of this region represents a novel microdeletion syndrome. We recommend that individuals with 7p22.3p22.2 deletions should receive a developmental assessment and a thorough cardiac exam, with consideration of an echocardiogram, as part of their initial evaluation.

Published
2016

15. Milder phenotypes of glucose transporter type 1 deficiency syndrome

Author

Zenobia Zaiwalla, Anuruddha Padeniya, Michael Pike, Ingrid E. Scheffer, Donncha Hanrahan, Sue Price, Hans Scheffer, Debbie Cox, Tony McShane, Sandeep Jayawant, Geetha Anand, Todor Arsov, John Hewertson, Andrea H. Németh, and Nicholas Mann

Subjects
Dystonia, medicine.medical_specialty, Movement disorders, Glucose transporter, medicine.disease, Epilepsy, Cerebrospinal fluid, Endocrinology, Developmental Neuroscience, Dyskinesia, Internal medicine, Pediatrics, Perinatology and Child Health, Hypoglycorrhachia, medicine, Neurology (clinical), medicine.symptom, Psychology, Glucose Transporter Type 1
Abstract

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile-onset epilepsy and severe developmental delay. Non-classical phenotypes with movement disorders and early-onset absence epilepsy are increasingly recognized and the clinical spectrum is expanding. The hallmark is hypoglycorrhachia (cerebrospinal fluid [CSF] glucose

Published
2011
Full Text
View/download PDF

16. Clinical and radiological findings in Schinzel–Giedion syndrome

Author

Ian Hayes, William Reardon, Mudaffer Al-Mudaffer, Christine Hall, Christine Oley, Sue Price, and Alison Stewart

Subjects
Male, Pediatrics, medicine.medical_specialty, business.industry, Schinzel–Giedion syndrome, Hypertrichosis, Infant, Newborn, Limb Deformities, Congenital, Infant, Nails, Malformed, Syndrome, medicine.disease, Diagnostic aid, Craniofacial Abnormalities, Fingers, Radiography, Radiological weapon, Pediatrics, Perinatology and Child Health, medicine, Humans, Abnormalities, Multiple, Female, Phalangeal hypoplasia, Pelvic Bones, business
Abstract

The absence of a definitive genetic test for the autosomal recessive condition Schinzel-Giedion syndrome is a significant handicap to the recognition of this disorder. Radiological features have been an important aspect of many of the published cases. In a series of six cases, we now establish a consistency among many of the radiological features in affected cases which will be an important diagnostic aid in identifying future cases. This is confirmed by reference to an extensive review of previously published instances of the syndrome. Moreover, the clinical data, including previously unpublished photographs, which we detail from our patients will assist in enhanced diagnosis in the future.

Published
2008
Full Text
View/download PDF

17. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Author

Ze Cheng, Donna G. Albertson, Helen Stewart, Jane A. Hurst, Raoul C.M. Hennekam, Edward Blair, Rebecca R. Selzer, Regina Regan, Evan E. Eichler, Stuart Schwartz, Carrie Fitzpatrick, Rick Segraves, Daniel Pinkel, Todd Richmond, Andrew J. Sharp, Peggy S. Eis, Sierra Hansen, Sue Price, Cheryl Guiver, Samantha J. L. Knight, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, and Paediatric Genetics

Subjects
Chromosomes, Artificial, Bacterial, Heterozygote, Gene Dosage, Biology, Genome, Gene Duplication, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Segmental duplication, Oligonucleotide Array Sequence Analysis, Gene Rearrangement, Polymorphism, Genetic, Genome, Human, Mosaicism, Nucleic Acid Hybridization, Chromosome Breakage, Gene rearrangement, medicine.disease, Physical Chromosome Mapping, 17q21.31 microdeletion syndrome, Human genome, Chromosome breakage, Chromosome Deletion, Comparative genomic hybridization, Chromosomes, Human, Pair 17
Abstract

Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic disorders. We tested 290 individuals with mental retardation by BAC array comparative genomic hybridization and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.31 found in four individuals. Using oligonucleotide arrays, we refined the breakpoints of this microdeletion, defining a 478-kb critical region containing six genes that were deleted in all four individuals. We mapped the breakpoints of this deletion and of four other pathogenic rearrangements in 1q21.1, 15q13, 15q24 and 17q12 to flanking segmental duplications, suggesting that these are also sites of recurrent rearrangement. In common with the 17q21.31 deletion, these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions.

Published
2006
Full Text
View/download PDF

18. Vessel caliber and restenosis: A prospective clinical and angiographic study of NIR stent deployment in small and large coronary arteries in the same patient

Author

Ian T. Meredith, Charles C. Chan, Peter Ruygrok, James T. Stewart, Mark Webster, Sue Price, John A. Ormiston, Koon H. Mak, and Justin J. Ardill

Subjects
Adult, Male, medicine.medical_specialty, Time Factors, Percutaneous, medicine.medical_treatment, Infarction, Coronary Angiography, Severity of Illness Index, Coronary Restenosis, Blood Vessel Prosthesis Implantation, Restenosis, Recurrence, Risk Factors, Angioplasty, medicine, Humans, Radiology, Nuclear Medicine and imaging, Prospective Studies, cardiovascular diseases, Myocardial infarction, Angioplasty, Balloon, Coronary, Coronary Artery Bypass, Aged, Retrospective Studies, Aged, 80 and over, medicine.diagnostic_test, business.industry, Stent, Equipment Design, General Medicine, Middle Aged, equipment and supplies, medicine.disease, Coronary Vessels, Surgery, Coronary arteries, Treatment Outcome, medicine.anatomical_structure, Angiography, Female, Stents, Radiology, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract

Retrospective analyses of patient cohorts undergoing stent deployment have shown that small vessel diameter and long lesion length are two angiographic predictors of increased restenosis. We determined the effects of these factors in patients with lesions treated in both small- and large-diameter coronary arteries. This multicenter prospective quantitative angiographic study evaluated patients with de novo coronary disease undergoing intervention who had at least two lesionsor = 16 mm length, one in a vesselor = 2.75 mm diameter (9 or 16 mm length seven-cell NIR stent) and the other in a vesselor = 3.0 mm diameter (9 or 16 mm nine-cell NIR stent). Of 94 patients enrolled, 76% were male, mean age was 62 years (range, 40-85), 41% were hypertensive, 18% had diabetes, 15% were current smokers, and 64% had hypercholesterolemia. Additional lesions were treated in 23% of patients. The procedural success rate was 99%. Six months postprocedure, there were no deaths or late stent occlusions. One patient suffered a Q-wave myocardial infarction, one a non-Q-wave infarction, eight underwent percutaneous reintervention, two coronary artery bypass graft surgery operations, and five stenting of other nonstudy lesions. The mean reference diameter for the small vessel was 2.35 mm and the large vessel 3.22 mm. Six-month angiography was performed in 87 patients (92% of those eligible). The overall restenosis rate was 24% in the small vessel (9 mm length stent, 17%; 16 mm length stent, 30%) and 15% in the large vessel (9 mm length stent, 3%; 16 mm length stent, 22%), respectively. Multivessel stenting including treatment of lesions in small-caliber vessels can be performed with a good clinical and angiographic outcome. When the patient, operator, technique, and stent type are the same, vessel caliber and stent length both appear to influence the restenosis rate.

Published
2003
Full Text
View/download PDF

21. A randomized study of direct coronary stent delivery compared with stenting after predilatation: The NIR future trial

Author

Mark W.I. Webster, John Elliott, Ian T. Meredith, James T. Stewart, Christopher J. Ellis, John A. Ormiston, Simon R. Dixon, Gerard Devlin, Mark Simmonds, P. Ruygrok, Sue Price, and Teena West

Subjects
medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Significant difference, Stent, General Medicine, law.invention, Surgery, Randomized controlled trial, law, Angioplasty, Coronary stent, medicine, Direct stenting, Fluoroscopy, Radiology, Nuclear Medicine and imaging, In patient, Cardiology and Cardiovascular Medicine, business
Abstract

This randomized trial compared a strategy of direct stenting without predilatation (n = 39) with conventional stenting with predilatation (n = 42) in patients with suitable lesions in native vessels > or = 2. 5-mm diameter to be covered by either a 9- or 16-mm-length NIR Primo stent. Equipment cost [mean (median) +/- SD] was less in those with direct stenting [$1,199 (979) +/- 526] than in those with predilatation [$1,455 (1,285) +/- 401, P < 0.001]. There was no significant difference in contrast use or fluoroscopy time. Procedural time was shorter in the direct stenting group. The clinical outcome at 1 month was satisfactory in both groups. In selected patients, a strategy of direct stenting is feasible, costs less, and is quicker to perform than the conventional strategy of stenting following predilatation.

Published
2000
Full Text
View/download PDF

22. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Author

Bwee Tien Poll-The, Nicola Foulds, Fred van Ruissen, Periklis Makrythanasis, Adrienn Máté, Tibor Hortobágyi, Marit B Dijns-de Wissel, Louise C. Wilson, James A. R. Nicoll, László Sztriha, Mary D. King, Charles B. L. M. Majoie, Darren J. Fowler, Andrew N Williams, Frank Baas, Thomas S. Jacques, Jikke-Mien F. Niermeijer, Declan O'Rourke, Henk A. Marquering, Sue Price, Veerle Rc Eggens, Jonathan Berg, Joel Victor Fluss, Niklas Darin, Peter G. Barth, Mohnish Suri, Abhijit Dixit, Dirk Troost, Eleonora Aronica, Mia T van Meegen, Genome Analysis, Paediatric Neurology, Amsterdam Neuroscience, Human Genetics, Amsterdam Public Health, Neurology, Pathology, Amsterdam Cardiovascular Sciences, Radiology and Nuclear Medicine, Biomedical Engineering and Physics, and Amsterdam Gastroenterology Endocrinology Metabolism

Subjects
Male, Exosome Multienzyme Ribonuclease Complex/genetics, Pontocerebellar hypoplasia, Genotype-phenotype correlations, Biology, Klinikai orvostudományok, medicine.disease_cause, Compound heterozygosity, Olivopontocerebellar atrophy, medicine, Missense mutation, Humans, Brain/pathology, Olivopontocerebellar Atrophies/genetics, Genetics(clinical), Pharmacology (medical), Neurodegeneration, Cerebellar hypoplasia, Genetics (clinical), Genetic Association Studies, Genetics, Medicine(all), Mutation, ddc:618, Exosome Multienzyme Ribonuclease Complex, Research, Brain, RNA-Binding Proteins, Orvostudományok, General Medicine, medicine.disease, RNA-Binding Proteins/genetics, Hypoplasia, Exosome component 3, EXOSC3 gene, Olivopontocerebellar Atrophies, Female
Abstract

BACKGROUND: Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine atrophy, and severe mental and motor impairments. PCH1 is distinctly characterized by the combination with degeneration of spinal motor neurons. Recently, mutations in the exosome component 3 gene (EXOSC3) have been identified in approximately half of the patients with PCH subtype 1.METHODS: We selected a cohort of 99 PCH patients (90 families) tested negative for mutations in the TSEN genes, RARS2, VRK1 and CASK. Patients in this cohort were referred with a tentative diagnose PCH type 1, 2, 4, 7 or unclassified PCH. Genetic analysis of the EXOSC3 gene was performed using Sanger sequencing. Clinical data, MR images and autopsy reports of patients positive for EXOSC3 mutations were analyzed.RESULTS: EXOSC3 mutations were found in twelve families with PCH subtype 1, and were not found in patients with other PCH subtypes. Identified mutations included a large deletion, nonsense and missense mutations. Examination of clinical data reveals a prolonged disease course in patients with a homozygous p.D132A mutation. MRI shows variable pontine hypoplasia in EXOSC3 mediated PCH, where the pons is largely preserved in patients with a homozygous p.D132A mutation, but attenuated in patients with other mutations. Additionally, bilateral cerebellar cysts were found in patients compound heterozygous for a p.D132A mutation and a nonsense allele.CONCLUSIONS: EXOSC3 mediated PCH shows clear genotype-phenotype correlations. A homozygous p.D132A mutation leads to PCH with possible survival into early puberty, and preservation of the pons. Compound heterozygosity for a p.D132A mutation and a nonsense or p.Y109N allele, a homozygous p.G31A mutation or a p.G135E mutation causes a more rapidly progressive course leading to death in infancy and attenuation of the ventral pons.Our findings imply a clear correlation between genetic mutation and clinical outcome in EXOSC3 mediated PCH, including variable involvement of the pons.

Published
2013

23. The special needs of children

Author

Sue Price

Subjects
Adult, Gerontology, Medical education, business.industry, Process (engineering), media_common.quotation_subject, Psychology, Child, Special needs, Child development, United Kingdom, Pediatric Nursing, Presentation, Child Development, Work (electrical), Implied consent, Humans, Medicine, Personality, Pediatric nursing, Child, business, Child, Hospitalized, General Nursing, media_common
Abstract

British literature related to the care of children in hospital states that they have 'special needs'. This concept is not defined; neither are different writers in total agreement about what these needs may be. This paper attempts to define needs, concluding that they are 'requirements that should be met'. Children are seen as dynamic beings because they are in a state of constant development, both physically and psychosocially. It is this state of development that makes their needs special to them. They have special requirements, which should be met in specific ways. Through the presentation of indicators of behaviours which would enable such needs to be met, it can be demonstrated that children should be cared for by people with the appropriate knowledge and understanding. When children are admitted to hospital there may be a number of different people involved in determining how a need should be met. An important part of this process should be nurses who have been specially educated for work with this age group.

Published
1994
Full Text
View/download PDF

24. Milder phenotypes of glucose transporter type 1 deficiency syndrome

Author

Geetha, Anand, Anuruddha, Padeniya, Donncha, Hanrahan, Hans, Scheffer, Zenobia, Zaiwalla, Debbie, Cox, Nicholas, Mann, John, Hewertson, Sue, Price, Andrea, Nemeth, Todor, Arsov, Ingrid, Scheffer, Sandeep, Jayawant, Michael, Pike, and Tony, McShane

Subjects
Male, Glucose Transporter Type 1, Adolescent, Monosaccharide Transport Proteins, Motor Activity, Severity of Illness Index, Diagnosis, Differential, Dystonia, Glucose, Phenotype, Epilepsy, Absence, Child, Preschool, Mutation, Humans, Female, Child, Gait, Carbohydrate Metabolism, Inborn Errors
Abstract

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile-onset epilepsy and severe developmental delay. Non-classical phenotypes with movement disorders and early-onset absence epilepsy are increasingly recognized and the clinical spectrum is expanding. The hallmark is hypoglycorrhachia (cerebrospinal fluid [CSF] glucose2.2 mmol/l) in the presence of normoglycaemia with a CSF/blood glucose ratio of less than 0.4. GLUT1DS is due to a mutation in the solute carrier family 2, member 1 gene (SLC2A1). We present five individuals (four males, one female), all of whom had a mild phenotype, highlighting the importance of considering this diagnosis in unexplained neurological disorders associated with mild learning difficulties, subtle motor delay, early-onset absence epilepsy, fluctuating gait disorders, and/or dystonia. The mean age at diagnosis was 8 years 8 months. This paper also shows phenotypical parallels between GLUT1DS and paroxysmal exertion-induced dyskinesia.

Published
2011

25. Characterization of a recurrent 15q24 microdeletion syndrome

Author

Stefania Gimelli, Raoul C.M. Hennekam, Regina Regan, Antonietta Coppola, Giorgio Gimelli, Joris A. Veltman, Orsetta Zuffardi, Nine V A M Knoers, Samantha J. L. Knight, Bert B.A. de Vries, Andrew J. Sharp, Evan E. Eichler, Peggy S. Eis, Pasquale Striano, Han G. Brunner, Sue Price, Rebecca R. Selzer, Sharp, A. J., Selzer, R. R., Veltman, J. A., Gimelli, S., Gimelli, G., Striano, P., Coppola, A., Regan, R., Price, S. M., Knoers, N. V., Eis, P. S., Brunner, H. G., Hennekam, R. C., Knight, S. J. L., de Vries, B. B. A., Zuffardi, O., Eichler, E. E., Amsterdam Neuroscience, Amsterdam Public Health, and Paediatric Genetics

Subjects
Adult, Male, Microcephaly, Health aging / healthy living [IGMD 5], Genetics and epigenetic pathways of disease [NCMLS 6], Adolescent, DNA Mutational Analysis, Molecular Sequence Data, Membrane transport and intracellular motility [NCMLS 5], Biology, Chromosomes, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], medicine, Humans, Abnormalities, Multiple, genetics, Hypertelorism, Molecular Biology, Genetics (clinical), Segmental duplication, Renal disorder [IGMD 9], Molecular diagnosis, prognosis and monitoring [UMCN 1.2], Oligonucleotide Array Sequence Analysis, Genetics, Chromosomes, Human, Pair 15, Base Sequence, Sotos syndrome, Breakpoint, Pair 15, Chromosome, Chromosome Breakage, General Medicine, Anatomy, Syndrome, medicine.disease, Abnormalities, Multiple, genetics, Adolescent, Adult, Base Sequence, Chromosome Breakage, Chromosome Deletion, Chromosomes, Human, genetics, DNA Mutational Analysis, Humans, Male, Molecular Sequence Data, Oligonucleotide Array Sequence Analysis, Syndrome, Chromosome breakage, medicine.symptom, Chromosome Deletion, Haploinsufficiency, Functional Neurogenomics [DCN 2]
Abstract

Contains fulltext : 53175.pdf (Publisher’s version ) (Closed access) We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size). High-resolution analysis showed that in three patients both proximal and distal breakpoints co-localized to highly identical segmental duplications (>51 kb in length, > 94% identity), suggesting non-allelic homologous recombination as the likely mechanism of origin. Sequencing studies in a fourth individual provided base pair resolution and showed that both breakpoints in this case were located in unique sequence. Despite the differences in the size and location of the deletions, all four individuals share several major features (growth retardation, microcephaly, digital abnormalities, hypospadias and loose connective tissue) and resemble one another facially (high anterior hair line, broad medial eyebrows, hypertelorism, downslanted palpebral fissures, broad nasal base, long smooth philtrum and full lower lip), indicating that this represents a novel syndrome caused by haploinsufficiency of one or more dosage-sensitive genes in the minimal deletion region. Our results define microdeletion of 15q24 as a novel recurrent genomic disorder.

Published
2007

27. Employing children's nurses?

Author

Sue Price

Subjects
Enrolled nurse, Employment, General nurse, Nursing staff, Newly qualified, Licensure, Nursing, Personnel Staffing and Scheduling, Public policy, General Medicine, Nurse's Role, State Medicine, United Kingdom, Pediatric Nursing, Career Mobility, Nursing Administration Research, Nursing, Workforce, Humans, Registries, Psychology, Personnel Selection, health care economics and organizations, Needs Assessment
Abstract

In 1994, the UKCC directed employers 'only to appoint persons into posts for which they have been appropriately by their programme of education and training leading to registration'. As part of a larger study into the expectations that NHS organisations have of newly qualified children's nurses, data were collected on the nursing registrations employers stipulated when wishing to appoint D grade staff to their children's wards. The survey was initially undertaken in 1998 and repeated in 2002. A letter requesting an application pack for 'a position as a D grade staff nurse on your children's ward/s' was sent to English NHS trusts identified as having a children's service. In 1998, 28 out of 47 (56 per cent) of the trusts appeared willing to employ nurses without a children's nursing qualification, indicating that a registered general nurse (RGN) or enrolled nurse qualification (EN) would be acceptable. In 2002, 12 of the trusts had changed their registration requirements for the D grade post since 1998 but four (out of 19 that provided data) were still apparently willing to employ non-children's nurses on children's wards. The size of the sample makes it inappropriate to generalize the results across all acute NHS trusts but there are indications that in spite of government policy and recommendations, some trusts appear willing to consider employing nurses without a children's qualification on children's wards.

Published
2003

28. Selecting candidates for interview for the Dip HE Child Branch

Author

Sue Price

Subjects
Medical education, Motivation, Career Choice, business.industry, Communication, Writing, Education, Nursing, Baccalaureate, Education, Pediatric Nursing, Interviews as Topic, Nursing Education Research, England, Surveys and Questionnaires, Medicine, Humans, School Admission Criteria, Students, Nursing, business, Social psychology, General Nursing, Selection (genetic algorithm)
Abstract

As part of a study into the selection of students who wished to become children’s nurses, institutions were asked to consider six hypothetical candidates and indicate ‘How likely is it that you would want to interview this candidate for your college’s child branch?’, giving reasons for their decision. Of the six candidates two were considered ‘highly acceptable’ and two ‘unacceptable’ by an expert panel. The remaining two filled the ‘middle ground’. Although there was an overall agreement on the level of acceptability of individual candidates, respondents drew different conclusions from the evidence in the applications. Decisions on suitability for interview were based on both the positive and negative aspects of the application. Candidates’ motivation towards their chosen profession of children’s nursing and their previous experience or knowledge of nursing were the two main factors influencing the likelihood of them being selected for interview.

Published
2002

31. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region

Author

Jill Clayton-Smith, Gudrun E. Moore, Philip Stanier, David Gabriel Monk, Sue Price, Michael A. Preece, Louise Bentley, Rachael A. Myler, M Hitchins, and Samira Ismail

Subjects
Chromosome 7 (human), Genetics, Candidate gene, Fetal Growth Retardation, Contig, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Breakpoint, Biology, medicine.disease, Uniparental disomy, Genomic Imprinting, Karyotyping, Gene duplication, medicine, Humans, Abnormalities, Multiple, Genomic imprinting, Genetics (clinical), Chromosomes, Human, Pair 7, In Situ Hybridization, Fluorescence, Chromosomal inversion, DNA Primers
Abstract

Silver-Russell syndrome (SRS) is characterised by pre- and postnatal growth restriction (PNGR) and additional dysmorphic features including body asymmetry and fifth finger clinodactyly. The syndrome is genetically heterogeneous, with a number of chromosomes implicated. However, maternal uniparental disomy for chromosome 7 has been demonstrated in up to 10% of all cases. Three SRS probands have previously been described with a maternally inherited duplication of 7p11.2-p13, defining this as a candidate region. Over-expression of a maternally transcribed, imprinted gene with growth-suppressing activity located within the duplicated region, or breakpoint disruption of genes or regulatory sequences, may account for the phenotype in these cases. Here we describe two additional SRS patients and four probands with PNGR with a range of cytogenetic disruptions of 7p, including duplications, pericentric inversions and a translocation. An incomplete contig consisting of 80 PACs and BACs from the centromere to 7p14 was constructed. Individual clones from this contig were used as FISH probes to map the breakpoints in the six new cases and the three duplication probands previously described. Our data provide further evidence for a candidate SRS region at 7p11.1-p14. A common breakpoint region was identified within 7p11.2 in all nine cases, pinpointing this specific interval. The imprinting status of genes within the 7p11.1-p14 region flanked by the most extreme breakpoints have been analysed using both somatic cell hybrids containing a single full-length maternally or paternally derived chromosome 7 and expressed single nucleotide polymorphisms in paired fetal and maternal samples.

Published
2001

32. Everything you need to know

Author

Sue Price

Subjects
Engineering, Operations research, Need to know, business.industry, Professional development, Engineering ethics, General Medicine, business
Published
2003
Full Text
View/download PDF

33. Assessing children's pain

Author

Sue Price

Subjects
medicine.medical_specialty, Adolescent, business.industry, Pain relief, Psychological intervention, Pain, Physical medicine and rehabilitation, Child, Preschool, Physical therapy, Medicine, Humans, Set (psychology), business, Child, General Nursing, Nursing Assessment, Pain Measurement
Abstract

Children's experience of pain is difficult to assess. A number of tools are available that enable children's pain to be measured. If these are used appropriately, practitioners can set measurable goals for pain relief and evaluate their interventions.

Published
1994

34. Children's nursing: lessons from the past

Author

Sue Price

Subjects
Nursing, business.industry, Medicine, Humans, Students, Nursing, General Medicine, Nurse Administrators, DUAL (cognitive architecture), business, Child, Nurse-Patient Relations, Pediatric Nursing
Abstract

This article traces the development of paediatric nursing and looks at the reasons why paediatric nurses have traditionally needed a dual qualification in adult nursing. The author argues that it is time paediatric nursing was regarded as separate from adult nursing and qualifications in both adult and children's nursing as unnecessary.

Published
1993

35. Activities during the pre-toddler and toddler period

Author

Sue Price and Rose-Anne Kelso

Subjects
Bathing, media_common.quotation_subject, digestive, oral, and skin physiology, Weight shift, Quality (business), Toddler, Trunk muscle, Psychology, human activities, Period (music), Developmental psychology, media_common, Fine motor
Abstract

During the pre-toddler and toddler period, there will be further development of the child’s postural, locomotor, and manipulative skills. The quality of the toddler’s actions will depend on the quality of the skills already acquired and on practice of desired patterns of movement. There are many movement activities to provide this practice that a physiotherapist can introduce to the caregiver and child with Down syndrome. Again, the most useful activities are those that can be adapted to become part of the normal day-to-day interactions between caregiver and child. Now that the child is older, the common daily routines of feeding, changing, bathing, and dressing offer even more opportunities for playful interactions and for practice of the desired movements.

Published
1993
Full Text
View/download PDF

36. Activities during infancy

Author

Sue Price and Rose-Anne Kelso

Subjects
Down syndrome, medicine.medical_specialty, Physical medicine and rehabilitation, Learning opportunities, Trunk rotation, medicine, Poor muscle tone, Psychology, medicine.disease, Tongue movement, Back muscles
Abstract

Many babies with Down syndrome have poor muscle tone and lie quietly in their cots so not attracting attention with their movements and vocalizations to the same extent as other children. For this reason, there is a tendency for caregivers to think that they are ‘good’ babies and leave them to lie peacefully in their cots. Yet the optimal development of these children relies on their opportunities to learn about themselves and their environment. The day-to-day interactions between the babies and their caregivers can provide handling and play experiences which make an essential contribution to these learning opportunities.

Published
1993
Full Text
View/download PDF

37. Off the Wall program (2000)

Author

Mary Miller; Tara Scott; Arthur Miller; Mary Chap; Mary-Sue Price; Tim McAfee; DJ Sanders; Melissa Schumacher and Mary Miller; Tara Scott; Arthur Miller; Mary Chap; Mary-Sue Price; Tim McAfee; DJ Sanders; Melissa Schumacher

Abstract

"Four student-directed one-act plays." Each play performed by 2 actors. 1) Ferris Wheel / by Mary Miller; directed by Tara Scott; 2)The Creation of the World and Other Business / by Arthur Miller; directed by Mary Chap; 3) That Midnight Rodeo / by Mary-Sue Price; directed by Tim McAfee; 4) Very Experimental: A Play About You / by DJ Sanders; directed by Melissa Schumacher. Part of ArtsQuest 2000.

Published
2000

38. Student nurses and children's pain

Author

Sue Price

Subjects
Male, Medical education, Adolescent, business.industry, Pain, Small sample, General Medicine, Pediatric Nursing, Syllabus, Nursing, Pain assessment, Child, Preschool, Medicine, Humans, Female, Students, Nursing, business, Child, Inclusion (education), Nursing Assessment
Abstract

The issue of pain assessment has attracted great interest in recent years, but there are as yet precious few studies which concentrate on paediatric nurses' assessment skills. Sue Price describes a study of how first-level (general) student nurses assessed children's pain. Despite a small sample size, she found wide variation in understanding of the intensity of pain being suffered by children. She recommends the inclusion of a session on the assessment and management of pain in the paediatric module of general nursing syllabuses.

Published
1991

39. Player gets new chance as show admits error

Author

Wilson, Sue Price

Subjects
General interest, News, opinion and commentary
Abstract

Sue Price Wilson A graduate student will get a second chance at $1 million after a game show goofed when it ruled that his answer on a $64,000 question was [...]

Published
1999

44. Book Reviews

Author

Pam Dobson, Sue Price, and Verena Wallace

Subjects
Gerontology, Centre for Reviews and Dissemination, business.industry, Maternity and Midwifery, Library science, Medicine, business
Abstract

MIDIRS and The NHS Centre for Reviews and Dissemination, with funding from the Department of Health, have produced a parallel series of five leaflets for the use of women and professionals. Colour coded and numbered, they cover a variety of topics relating to pregnancy and childbirth. The leaflets for professionals include a reference list and section giving the ‘Implications for Practice’. Research evidence, mainly from randomized controlled trials, is discussed and interpreted in the text.

Published
1996
Full Text
View/download PDF

45. Activities for Babies and Toddlers with Down Syndrome: A Physiotherapy Approach

Author

Sue Price and Rose-Anne Kelso

Subjects
Psychomotor learning, Down syndrome, medicine.medical_specialty, Health (social science), Child rearing, medicine.disease, Skill development, Health Professions (miscellaneous), Perceptual Motor Coordination, Education, Interpersonal competence, medicine, Physical therapy, Developmental and Educational Psychology, Psychology, Preschool education, Motor skill
Published
1990
Full Text
View/download PDF

46. Audio Visual Reviews

Author

Colin Wood-Robinson, Fiona Clarke, Valerie Dalsou, John A. Barker, A. J. Williams, D. Bisson, Edward Playfair, Jane Ward, Joy Andrews, Penelope Harris, Sue Price, R. Sloss, A. Terchin, S. Webster, J. R. Adams, and Pat Saunders

Subjects
General Agricultural and Biological Sciences, Education
Published
1983
Full Text
View/download PDF

47. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Author

Sau Wai Cheung, Usha Kini, Han G. Brunner, Rolph Pfundt, Ronald Roepman, V. Reid Sutton, Lachlan A. Jolly, Jozef Gecz, Helena Malmgren, Deepti Domingo, Brooke L. Latour, Ka Man Wu, Emma Hobson, Maaike Vreeburg, Christian Gilissen, Carlo M. Marcelis, Bruno Reversade, Pilar L. Magoulas, Tjitske Kleefstra, Angela Barnicoat, Sue Price, Vasilios Zachariadis, Margot R.F. Reijnders, Hermine E. Veenstra-Knol, Jiin Ying Lim, Conny M. A. van Ravenswaaij-Arts, Nicola S. Cooper, Frank J. Probst, G. M. S. Mancini, Arja Harila-Saari, Alice S. Brooks, Ann Nordgren, Britt-Marie Anderlid, Stephen A. Wood, Zornitza Stark, Julie Vogt, Angeline Hwei Meeng Lai, Clinical Genetics, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Center for Reproductive Medicine, Genetica & Celbiologie, MUMC+: DA KG Polikliniek (9), MUMC+: DA Klinische Genetica (5), Klinische Genetica, and RS: GROW - R4 - Reproductive and Perinatal Medicine

Subjects
0301 basic medicine, Developmental Disabilities, Choanal atresia, medicine.disease_cause, FAT-FACETS GENE, BETA-CATENIN, 0302 clinical medicine, Genes, X-Linked, X Chromosome Inactivation, Genetics(clinical), 10. No inequality, Child, Genetics (clinical), Genetics, Mutation, Polydactyly, Cilium, Phenotype, Child, Preschool, Female, DEUBIQUITYLATING ENZYME, medicine.symptom, Ubiquitin Thiolesterase, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, Adolescent, DISORDERS, Molecular Sequence Data, INTERACTS, Biology, Short stature, Choanal Atresia, 03 medical and health sciences, Young Adult, X-CHROMOSOME INACTIVATION, Internal medicine, Intellectual Disability, Report, medicine, Humans, Genetic Testing, LINKED INTELLECTUAL DISABILITY, Loss function, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Base Sequence, medicine.disease, Ciliopathy, DEUBIQUITINATING ENZYME, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Endocrinology, FAM/USP9X, EXPRESSION ANALYSIS, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 167699.pdf (Publisher’s version ) (Open Access) Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly conserved deubiquitinating enzyme. The females in our study have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Four females from our cohort were identified by targeted genetic testing because their phenotype was suggestive for USP9X mutations. In several females, pigment changes along Blaschko lines and body asymmetry were observed, which is probably related to differential (escape from) X-inactivation between tissues. Expression studies on both mRNA and protein level in affected-female-derived fibroblasts showed significant reduction of USP9X level, confirming the loss-of-function effect of the identified mutations. Given that some features of affected females are also reported in known ciliopathy syndromes, we examined the role of USP9X in the primary cilium and found that endogenous USP9X localizes along the length of the ciliary axoneme, indicating that its loss of function could indeed disrupt cilium-regulated processes. Absence of dysregulated ciliary parameters in affected female-derived fibroblasts, however, points toward spatiotemporal specificity of ciliary USP9X (dys-)function.

Full Text
View/download PDF

48. RENEWING THE VALUE OF A MERCHANT.

Author

Debbie-Sue Price

Subjects
MERCHANTS, SUPPLIERS, GREEN technology, CONSTRUCTION equipment industry
Abstract

In this article, the author discusses the challenges faced by merchants in the construction industry with the uptake of renewable technologies in Great Britain. She outlines the plan of European suppliers of renewable systems to deal directly with the British market since the grants in other countries have dried up. She highlights the role of the merchant sector in protecting and ensuring a strong network for installers venturing in the renewables market.

Published
2011

Catalog

Books, media, physical & digital resources
See catalog results