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Linda Gilmore - One of the best experts on this subject based on the ideXlab platform.

  • Supporting families of children with rare and unique Chromosome Disorders
    Research and Practice in Intellectual and Developmental Disabilities, 2017
    Co-Authors: Linda Gilmore
    Abstract:

    The aim of this research was to investigate the experiences of families whose child was diagnosed with a rare, and apparently unique, Chromosome Disorder. The participants were 22 parents who had been told that their child was the only one in the world with a specific Chromosome abnormality. The parents completed an online questionnaire about the information and support they had accessed following diagnosis, and the difficulties associated with their child’s unique Disorder. There were 24 affected children, aged 1 to 17 years, and one young adult in the participating families. Most experienced significant delays with cognitive, language and motor development. Problems with general health and behaviour were also common. Parents reported that they received the most useful information from support groups. The most important sources of support were allied health professionals, support groups and other parents. The parents described the ways in which they had been affected by the lack of knowledge about their child’s specific Disorder. Common themes included uncertainty and confusion, feelings of isolation, fears for the future, mental health issues, and frustration because the Chromosome Disorder had no associated syndrome name.

  • Understanding Chromosome Disorders and their Implications for Special Educators
    Cypriot Journal of Educational Sciences, 2014
    Co-Authors: Linda Gilmore
    Abstract:

    More children are now being diagnosed with Chromosome abnormalities. Some Chromosome Disorder syndromes are relatively well known; while others are so rare that there is only limited evidence about their likely impact on learning and development. For educators, a basic level of knowledge about Chromosome abnormalities is important for understanding the literature and communicating with families and professionals. This paper describes Chromosomes, and the numerical and structural anomalies that can occur, usually spontaneously during early cell division.  Distinctive features of various Chromosome syndromes are summarised before a discussion of the rare Chromosome Disorders that are labelled, not with a syndrome name, but simply by a description of the Chromosome number, size and shape.  Because of the potential within-group variability that characterises syndromes, and the scarcity of literature about the rare Chromosome Disorders, expectations for learning and development of individual students need to be based on the range of possible outcomes that may be achievable. Keywords:  Chromosomes, Chromosome Disorders, Chromosome abnormalities, rare Chromosome Disorders, developmental outcomes.

  • Understanding Chromosome Disorders and their implications for special educators
    2014
    Co-Authors: Linda Gilmore
    Abstract:

    More children are now being diagnosed with Chromosome abnormalities. Some Chromosome Disorder syndromes are relatively well known; while others are so rare that there is only limited evidence about their likely impact on learning and development. For educators, a basic level of knowledge about Chromosome abnormalities is important for understanding the literature and communicating with families and professionals. This paper describes Chromosomes, and the numerical and structural anomalies that can occur, usually spontaneously during early cell division. Distinctive features of various Chromosome syndromes are summarised before a discussion of the rare Chromosome Disorders that are labelled, not with a syndrome name, but simply by a description of the Chromosome number, size and shape. Because of the potential within-group variability that characterises syndromes, and the scarcity of literature about the rare Chromosome Disorders, expectations for learning and development of individual students need to be based on the range of possible outcomes that may be achievable.

  • Supporting siblings of children with a rare Chromosome Disorder [Chromosome Disorder Leaflets]
    2012
    Co-Authors: Linda Gilmore, Melanie Waugh, Allison Haynes, Carley Hearne, Charlotte Mercer, Kimberley J. Wilson
    Abstract:

    Siblings play an important role in children’s learning and development. Interactions with brothers and sisters provide opportunities to learn about sharing and emotional reciprocity, to develop social skills, to express thoughts and feelings, and to practise resolving conflict. But for children whose brother or sister has a disability, such as a rare Chromosome Disorder, some of these sibling experiences may be different. Many parents worry about how their non-disabled child will be affected by the experience of living with a brother or sister with a disability, and a great deal of research has explored both the possible negative consequences and also the potential benefits for siblings. In this article, we summarise the research findings and provide suggestions for ways that parents can support the positive development and well-being of all their children.

  • Supporting siblings of children with a rare Chromosome Disorder
    2012
    Co-Authors: Linda Gilmore, Melanie Waugh, Allison Haynes, Carley Hearne, Charlotte Mercer, Kimberley J. Wilson
    Abstract:

    Siblings play an important role in children’s learning and development. Interactions with brothers and sisters provide opportunities to learn about sharing and emotional reciprocity, to develop social skills, to express thoughts and feelings, and to practise resolving conflict. But for children whose brother or sister has a disability, such as a rare Chromosome Disorder, some of these sibling experiences may be different. Many parents worry about how their non-disabled child will be affected by the experience of living with a brother or sister with a disability, and a great deal of research has explored both the possible negative consequences and also the potential benefits for siblings. In this article, we summarise the research findings and provide suggestions for ways that parents can support the positive development and well-being of all their children.

Hultén - One of the best experts on this subject based on the ideXlab platform.

  • UK families with children with rare Chromosome Disorders: Changing experiences of diagnosis and counselling (2003-2013).
    Clinical genetics, 2018
    Co-Authors: Ala Szczepura, Sarah Wynn, Beverly Searle, Amir Jahan Khan, Tom M. Palmer, Deborah Biggerstaff, Josh Elliott, Hultén
    Abstract:

    The latest United Kingdom (UK) strategy for rare diseases emphasises the need to empower affected populations to improve diagnosis, intervention, and coordination of care. Families who have a child with a rare Chromosome Disorder (RCD) are a challenging group to include. We report the findings of 2 large-scale surveys, undertaken by the UK RCD Support Group Unique, of these families' experiences over a 10-year period. Seven stages of the patient journey were examined. From pre-testing, through diagnosis, genetics consultation, clinical follow-up and peer support. Overall, 1158 families replied; 36.4% response rate (2003) and 53.6% (2013). Analysis of responses identifies significant differences (P < .001) over time with a decrease in results reported face to face (76%-62%), doubling by telephone (12%-22%), improved explanation of Chromosome Disorder (57%-75%), and increased signposting to peer support group (34%-62%). However, conduct of the consultation raises a number of important questions. Overall, 28 aspects of the patient journey are recognised as requiring improvement; only 12/28 are currently incorporated in UK service specifications. Involvement of RCD families has identified key service improvements. This approach can empower those affected by such extremely rare Disorders, and also enable professionals to design improved services in partnership with "expert families." Further surveys are planned.

  • Evidence-based information guides to rare Chromosome Disorders for families and professionals
    Orphanet Journal of Rare Diseases, 2010
    Co-Authors: Beverly Searle, Sarah Wynn, Prisca Middlemiss, Hultén
    Abstract:

    The purpose of this project is to develop reliable, relevant, accurate leaflets for affected families and health (and other) professionals that fill an information gap about rare Chromosome Disorders. In 2003 Unique surveyed information materials published in the UK about specific rare Chromosome Disorders: for over 93% of members, no accessible Disorder-specific information was available. Unique asked families what they most wanted to know at diagnosis and what questions remained unanswered. Unique prioritised 66 Disorders according to frequency on its database (7,140 member families at February 2010) and absence of existing information accessible to families. Information was compiled from the medical literature, from Unique’s database and from detailed surveys sent to member families. Draft texts were reviewed for accuracy by Unique’s medical adviser and by medical and genetics professional experts in the specific Disorders. Photographically illustrated draft leaflets were vetted for content by families. By early 2010, leaflets have been developed on 113 rare Chromosome Disorders including numerical and structural Disorders, subtelomere deletions, mosaic Disorders, emerging microdeletion and microduplication syndromes and a broad range of less common diagnoses. Twenty-one leaflets have been translated into at least one European language. Many more leaflets are in preparation or planned. Leaflets are available free to families and the professionals who work with them either in print format or online from Unique’s website at http://www.rarechromo.org. The leaflets improve families’ understanding and acceptance of a rare Chromosome Disorder and help diminish the acute stress and anxiety associated with diagnosis. They are also proving to be a useful resource for professionals, including health professionals in clinic.

  • Rapid and simple prenatal diagnosis of common Chromosome Disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.
    Reproduction (Cambridge England), 2003
    Co-Authors: Hultén, Seema Dhanjal, Barbara Pertl
    Abstract:

    Molecular techniques have been developed for prenatal diagnosis of the most common Chromosome Disorders (trisomies 21, 13, 18 and sex Chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full Chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a Chromosome Disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal Chromosome Disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling Chromosome Disorder would remain undiagnosed.

Lina Artifoni - One of the best experts on this subject based on the ideXlab platform.

  • Macrocephaly and Chromosome Disorders : a case report
    Brain and Development, 1996
    Co-Authors: Paola Drigo, Sabina Carrà, Anna Maria Laverda, Lina Artifoni
    Abstract:

    We report the case of a young patient with macrocephaly. After excluding the most frequent causes of macrocephaly (hereditary Disorders, degenerative, osseous and metabolic diseases, neurocutaneous syndromes and cerebral malformations), the likelihood of a Chromosome Disorder was investigated, revealing an unbalanced de novo translocation: 46,X,der(X),t(X;7) (q13 or q13.2; q11.23 or q21.11), i.e., a partial trisomy of the long arm of Chromosome 7, associated with a partial monosomy of the long arm of Chromosome X. Though this Chromosome Disorder is relatively rare, it should be considered in the differential diagnosis of patients under one year of age presenting with macrocephaly, scoliosis and non-progressive psychomotor retardation.

Tomáš Freiberger - One of the best experts on this subject based on the ideXlab platform.

Page, David C - One of the best experts on this subject based on the ideXlab platform.

  • Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery
    'Wiley', 2020
    Co-Authors: Kruszka Paul, Buscetta Ashley, Acosta, Maria T., Banks Nicole, Addissie, Yonit A., Toro Camilo, Luby Marie, Latour Lawrence, Vezina Gilbert, Page, David C
    Abstract:

    Purpose: Turner syndrome (TS) is the most common sex Chromosome Disorder in women and is associated with a higher than expected death rate secondary to cerebrovascular disease, including stroke. This study evaluates the cerebral vascular anatomy of individuals with TS. Methods: Twenty-one women with TS had brain magnetic resonance angiography (MRA). These MRAs were evaluated in a blinded manner with a control group of 25 men and 25 women who had MRA imaging for multiple indications including migraine headaches, psychiatric Disorders, and seizures. Results: Twenty-nine percent of women with TS were missing an A1 segment of the anterior cerebral artery (ACA) compared to 0% in the control group (p