title: The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
abstract: Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It has historically been considered a DNA repair disorder; fibroblasts from classic patients often exhibit impaired transcription-coupled nucleotide excision repair. Previous studies have largely been restricted to case reports and small series, and no guidelines for care have been established.
  
  
  
  One hundred two study participants were identified through a network of collaborating clinicians and the Amy and Friends CS support groups. Families with a diagnosis of CS could also self-recruit. Comprehensive clinical information for analysis was obtained directly from families and their clinicians.
  
  
  
  We present the most complete evaluation of Cockayne syndrome to date, including detailed information on the prevalence and onset of clinical features, achievement of neurodevelopmental milestones, and patient management. We confirm that the most valuable prognostic factor in CS is the presence of early cataracts. Using this evidence, we have created simple guidelines for the care of individuals with CS. We aim to assist clinicians in the recognition, diagnosis, and management of this condition and to enable families to understand what problems they may encounter as CS progresses.Genet Med 18 5, 483-493.
authors.affiliation: Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.|Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Brian T
authors.identifier: 0000-0003-0654-5442
authors.initials: BT
authors.lastname: Wilson
authors.affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
authors.forename: Zornitza
authors.identifier: 0000-0001-8640-1371
authors.initials: Z
authors.lastname: Stark
authors.affiliation: Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Ruth E
authors.initials: RE
authors.lastname: Sutton
authors.affiliation: Clinical Genetics Unit, Christian Medical College, Vellore, India.
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
authors.affiliation: Clinical Genetics Unit, Christian Medical College, Vellore, India.
authors.forename: Alka V
authors.initials: AV
authors.lastname: Ekbote
authors.affiliation: Medical Genetics Center, Korba, Cairo, Egypt.|Children's Hospital, Ain Shams University, Cairo, Egypt.
authors.forename: Solaf M
authors.initials: SM
authors.lastname: Elsayed
authors.affiliation: Paediatrics & Child Health, University College Cork, Cork, Republic of Ireland.
authors.forename: Louise
authors.initials: L
authors.lastname: Gibson
authors.affiliation: Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.|Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Judith A
authors.initials: JA
authors.lastname: Goodship
authors.affiliation: MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Jackson
authors.affiliation: Clinical Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
authors.forename: Wee Teik
authors.initials: WT
authors.lastname: Keng
authors.affiliation: Paediatric Neurology, Temple Street Children's University Hospital, Dublin, Republic of Ireland.|School of Medicine and Medical Science, University College Dublin, Dublin, Republic of Ireland.
authors.forename: Mary D
authors.initials: MD
authors.lastname: King
authors.affiliation: Department of Clinical Genetics, Glan Clwyd Hospital, Rhyl, Denbighshire, UK.
authors.forename: Emma
authors.initials: E
authors.lastname: McCann
authors.affiliation: Division of Child Neurology, Chiba Children's Hospital, Chiba, Japan.
authors.forename: Toshino
authors.initials: T
authors.lastname: Motojima
authors.affiliation: MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Murray
authors.affiliation: Division of Child Neurology, Chiba Children's Hospital, Chiba, Japan.
authors.forename: Taku
authors.initials: T
authors.lastname: Omata
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
authors.forename: Daniela
authors.initials: D
authors.lastname: Pilz
authors.affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
authors.forename: Kate
authors.initials: K
authors.lastname: Pope
authors.affiliation: Division of Child Health, Faculty of Education, Chiba University, Chiba, Japan.
authors.forename: Katsuo
authors.initials: K
authors.lastname: Sugita
authors.affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
authors.forename: Susan M
authors.identifier: 0000-0001-7611-634X
authors.initials: SM
authors.lastname: White
authors.affiliation: Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Ian J
authors.initials: IJ
authors.lastname: Wilson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D004265:DNA Helicases / Q000235:genetics; D004260:DNA Repair / Q000235:genetics; D045643:DNA Repair Enzymes / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D000075223:Poly-ADP-Ribose Binding Proteins; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult
chemical_list: C095472:ERCC8 protein, human; D000075223:Poly-ADP-Ribose Binding Proteins; D014157:Transcription Factors; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes