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Views</span></p><p class="data"><span class="js-profile-view-count"></span></p></div></span></div><div class="ri-section"><div class="ri-section-header"><span>Interests</span></div><div class="ri-tags-container"><a data-click-track="profile-user-info-expand-research-interests" data-has-card-for-ri-list="42311117" href="https://www.academia.edu/Documents/in/Counselling_and_Psychotherapy"><div id="js-react-on-rails-context" style="display:none" data-rails-context="{"inMailer":false,"i18nLocale":"en","i18nDefaultLocale":"en","href":"https://independent.academia.edu/SusanPattison","location":"/SusanPattison","scheme":"https","host":"independent.academia.edu","port":null,"pathname":"/SusanPattison","search":null,"httpAcceptLanguage":null,"serverSide":false}"></div> <div class="js-react-on-rails-component" style="display:none" data-component-name="Pill" data-props="{"color":"gray","children":["Counselling \u0026 Psychotherapy"]}" data-trace="false" 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data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/21094802/Online_Counselling_for_Children_and_Young_People"><img alt="Research paper thumbnail of Online Counselling for Children and Young People" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/21094802/Online_Counselling_for_Children_and_Young_People">Online Counselling for Children and Young People</a></div><div class="wp-workCard_item wp-workCard--coauthors"><span>by </span><span><a class="" data-click-track="profile-work-strip-authors" href="https://manchester.academia.edu/TerryHanley">Terry Hanley</a>, <a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/SusanPattison">Susan Pattison</a>, 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hidden">We describe an ongoing study that explores the introduction of digital technology into play therapy. 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from the Experiences of International Counselling Students" class="work-thumbnail" src="https://attachments.academia-assets.com/42550508/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/21094799/Internationalization_of_British_Universities_Learning_from_the_Experiences_of_International_Counselling_Students">Internationalization of British Universities: Learning from the Experiences of International Counselling Students</a></div><div class="wp-workCard_item"><span>International Journal for the Advancement of Counselling</span><span>, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="00bd448016be580aa173cedbb1673f49" class="wp-workCard--action" rel="nofollow" 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="21094798"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/21094798/Five_novel_mutations_in_the_lysosomal_sialidase_gene_NEU1_in_type_II_sialidosis_patients_and_assessment_of_their_impact_on_enzyme_activity_and_intracellular_targeting_using_adenovirus_mediated_expression"><img alt="Research paper thumbnail of Five novel mutations in the lysosomal sialidase gene ( NEU1 ) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/21094798/Five_novel_mutations_in_the_lysosomal_sialidase_gene_NEU1_in_type_II_sialidosis_patients_and_assessment_of_their_impact_on_enzyme_activity_and_intracellular_targeting_using_adenovirus_mediated_expression">Five novel mutations in the lysosomal sialidase gene ( NEU1 ) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression</a></div><div class="wp-workCard_item"><span>Human Mutation</span><span>, 2004</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from four unrelated sialidosis patients was screened for mutations within the sialidase gene NEU1. Five novel mutations were identified. Four are missense and one is nonsense: c.674G&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.R225P), c.893C&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.A298V), c.3G&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.M1?), c.941C&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;G (p.R341G), and c.69G&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.W23X). We have used our findings and diagnostic tools to confirm the presence of a homozygous null allele in a neonate sibling. Recombinant adenoviruses expressing the mutant sialidase alleles in primary cell cultures were utilized to assess the impact of each mutation on enzyme activity and intracellular localization. None of the mutant alleles expressed significant enzymatic activity. The p.R341G mutation exerts its pathological effect by perturbing substrate binding, while the p.A298V and p.R225P mutations appear to impair the folding of the sialidase enzyme. Our findings point to mutation-sensitive amino acids involved in catalytic function or structural stability and indicate the potential utility of these mutations for molecular diagnosis of this rare disease.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="21094798"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="21094798"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 21094798; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=21094798]").text(description); $(".js-view-count[data-work-id=21094798]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 21094798; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='21094798']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 21094798, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=21094798]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":21094798,"title":"Five novel mutations in the lysosomal sialidase gene ( NEU1 ) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression","translated_title":"","metadata":{"abstract":"Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from four unrelated sialidosis patients was screened for mutations within the sialidase gene NEU1. Five novel mutations were identified. Four are missense and one is nonsense: c.674G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.R225P), c.893C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.A298V), c.3G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.M1?), c.941C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;G (p.R341G), and c.69G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.W23X). We have used our findings and diagnostic tools to confirm the presence of a homozygous null allele in a neonate sibling. Recombinant adenoviruses expressing the mutant sialidase alleles in primary cell cultures were utilized to assess the impact of each mutation on enzyme activity and intracellular localization. None of the mutant alleles expressed significant enzymatic activity. The p.R341G mutation exerts its pathological effect by perturbing substrate binding, while the p.A298V and p.R225P mutations appear to impair the folding of the sialidase enzyme. Our findings point to mutation-sensitive amino acids involved in catalytic function or structural stability and indicate the potential utility of these mutations for molecular diagnosis of this rare disease.","publication_date":{"day":null,"month":null,"year":2004,"errors":{}},"publication_name":"Human Mutation"},"translated_abstract":"Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from four unrelated sialidosis patients was screened for mutations within the sialidase gene NEU1. Five novel mutations were identified. Four are missense and one is nonsense: c.674G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.R225P), c.893C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.A298V), c.3G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.M1?), c.941C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;G (p.R341G), and c.69G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.W23X). We have used our findings and diagnostic tools to confirm the presence of a homozygous null allele in a neonate sibling. Recombinant adenoviruses expressing the mutant sialidase alleles in primary cell cultures were utilized to assess the impact of each mutation on enzyme activity and intracellular localization. None of the mutant alleles expressed significant enzymatic activity. The p.R341G mutation exerts its pathological effect by perturbing substrate binding, while the p.A298V and p.R225P mutations appear to impair the folding of the sialidase enzyme. 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Weisz, JR, Weiss, B., Alicke, MD and Klotz, ML 1987. ... [CrossRef] View all references). Two...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">... Weisz, JR, Weiss, B., Alicke, MD and Klotz, ML 1987. ... [CrossRef] View all references). Two studies challenge the use of individual therapies with ethnic minority children and adolescents with severe behaviour problems (Szapocznik, 1989; Weiss, Catron &amp;amp; Harris, 200058. ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="21094797"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="21094797"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 21094797; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=21094797]").text(description); $(".js-view-count[data-work-id=21094797]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 21094797; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='21094797']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 21094797, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=21094797]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":21094797,"title":"Counselling children and young people: A review of the evidence for its effectiveness","translated_title":"","metadata":{"abstract":"... 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href="https://www.academia.edu/20709332/Randomised_controlled_trial_of_school_based_humanistic_counselling_for_emotional_distress_in_young_people_Feasibility_study_and_preliminary_indications_of_efficacy"><img alt="Research paper thumbnail of Randomised controlled trial of school-based humanistic counselling for emotional distress in young people: Feasibility study and preliminary indications of efficacy" class="work-thumbnail" src="https://attachments.academia-assets.com/41518462/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/20709332/Randomised_controlled_trial_of_school_based_humanistic_counselling_for_emotional_distress_in_young_people_Feasibility_study_and_preliminary_indications_of_efficacy">Randomised controlled trial of school-based humanistic counselling for emotional distress in young people: Feasibility study and preliminary indications of efficacy</a></div><div class="wp-workCard_item wp-workCard--coauthors"><span>by </span><span><a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/NancyRowland">Nancy Rowland</a>, <a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/KatherineMcArthur">Katherine McArthur</a>, and <a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/SusanPattison">Susan Pattison</a></span></div><div class="wp-workCard_item"><span>Child and Adolescent Psychiatry and Mental Health</span><span>, 2010</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="95bd2afd5c74f036642b65710bb556f8" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" 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href="https://www.academia.edu/21094795/The_delivery_of_a_survivors_group_for_learning_disabled_women_with_significant_learning_disabilities_who_have_been_sexually_abused"><img alt="Research paper thumbnail of The delivery of a survivors’ group for learning disabled women with significant learning disabilities who have been sexually abused" class="work-thumbnail" src="https://attachments.academia-assets.com/41712179/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/21094795/The_delivery_of_a_survivors_group_for_learning_disabled_women_with_significant_learning_disabilities_who_have_been_sexually_abused">The delivery of a survivors’ group for learning disabled women with significant learning disabilities who have been sexually abused</a></div><div class="wp-workCard_item"><span>British Journal of Learning Disabilities</span><span>, 2007</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="c070b95f011d15761914176228ab0310" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":41712179,"asset_id":21094795,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/41712179/download_file?st=MTczMzAxMjM2NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="21094795"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span 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Everybody felt angry about what had happened and it was good to hear they were not alone. • After several months the group helped the women feel less scared and depressed and helped the women's carers understand them better. • This research matters because it helped the women move on with their lives and will help others who want to start a survivors' of sexual abuse group.","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"British Journal of Learning 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data-work-id="21094794"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/21094794/Reaching_out_a_proactive_process_to_include_young_people_with_learning_disabilities_in_counselling_in_secondary_schools_in_the_UK"><img alt="Research paper thumbnail of Reaching out: a proactive process to include young people with learning disabilities in counselling in secondary schools in the UK" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/21094794/Reaching_out_a_proactive_process_to_include_young_people_with_learning_disabilities_in_counselling_in_secondary_schools_in_the_UK">Reaching out: a proactive process to include young people with learning disabilities in counselling in secondary schools in the UK</a></div><div class="wp-workCard_item"><span>British Journal of Guidance & Counselling</span><span>, 2010</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">This paper presents a proactive process to include young people with learning disabilities in mai...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">This paper presents a proactive process to include young people with learning disabilities in mainstream counselling in secondary schools in the UK based on the findings of a consequential mixed methods research study. Data were collected from a quantitative and qualitative survey (n = 396) and qualitative semi-structured interviews (n = 15) with counsellors and psychotherapists producing findings that were</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="21094794"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="21094794"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 21094794; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=21094794]").text(description); $(".js-view-count[data-work-id=21094794]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 21094794; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='21094794']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 21094794, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=21094794]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":21094794,"title":"Reaching out: a proactive process to include young people with learning disabilities in counselling in secondary schools in the UK","translated_title":"","metadata":{"abstract":"This paper presents a proactive process to include young people with learning disabilities in mainstream counselling in secondary schools in the UK based on the findings of a consequential mixed methods research study. 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from the Experiences of International Counselling Students" class="work-thumbnail" src="https://attachments.academia-assets.com/42550508/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/21094799/Internationalization_of_British_Universities_Learning_from_the_Experiences_of_International_Counselling_Students">Internationalization of British Universities: Learning from the Experiences of International Counselling Students</a></div><div class="wp-workCard_item"><span>International Journal for the Advancement of Counselling</span><span>, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="00bd448016be580aa173cedbb1673f49" class="wp-workCard--action" rel="nofollow" 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="21094798"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/21094798/Five_novel_mutations_in_the_lysosomal_sialidase_gene_NEU1_in_type_II_sialidosis_patients_and_assessment_of_their_impact_on_enzyme_activity_and_intracellular_targeting_using_adenovirus_mediated_expression"><img alt="Research paper thumbnail of Five novel mutations in the lysosomal sialidase gene ( NEU1 ) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/21094798/Five_novel_mutations_in_the_lysosomal_sialidase_gene_NEU1_in_type_II_sialidosis_patients_and_assessment_of_their_impact_on_enzyme_activity_and_intracellular_targeting_using_adenovirus_mediated_expression">Five novel mutations in the lysosomal sialidase gene ( NEU1 ) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression</a></div><div class="wp-workCard_item"><span>Human Mutation</span><span>, 2004</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from four unrelated sialidosis patients was screened for mutations within the sialidase gene NEU1. Five novel mutations were identified. Four are missense and one is nonsense: c.674G&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.R225P), c.893C&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.A298V), c.3G&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.M1?), c.941C&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;G (p.R341G), and c.69G&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.W23X). We have used our findings and diagnostic tools to confirm the presence of a homozygous null allele in a neonate sibling. Recombinant adenoviruses expressing the mutant sialidase alleles in primary cell cultures were utilized to assess the impact of each mutation on enzyme activity and intracellular localization. None of the mutant alleles expressed significant enzymatic activity. The p.R341G mutation exerts its pathological effect by perturbing substrate binding, while the p.A298V and p.R225P mutations appear to impair the folding of the sialidase enzyme. Our findings point to mutation-sensitive amino acids involved in catalytic function or structural stability and indicate the potential utility of these mutations for molecular diagnosis of this rare disease.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="21094798"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="21094798"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 21094798; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=21094798]").text(description); $(".js-view-count[data-work-id=21094798]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 21094798; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='21094798']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 21094798, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=21094798]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":21094798,"title":"Five novel mutations in the lysosomal sialidase gene ( NEU1 ) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression","translated_title":"","metadata":{"abstract":"Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from four unrelated sialidosis patients was screened for mutations within the sialidase gene NEU1. Five novel mutations were identified. Four are missense and one is nonsense: c.674G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.R225P), c.893C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.A298V), c.3G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.M1?), c.941C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;G (p.R341G), and c.69G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.W23X). We have used our findings and diagnostic tools to confirm the presence of a homozygous null allele in a neonate sibling. Recombinant adenoviruses expressing the mutant sialidase alleles in primary cell cultures were utilized to assess the impact of each mutation on enzyme activity and intracellular localization. None of the mutant alleles expressed significant enzymatic activity. The p.R341G mutation exerts its pathological effect by perturbing substrate binding, while the p.A298V and p.R225P mutations appear to impair the folding of the sialidase enzyme. Our findings point to mutation-sensitive amino acids involved in catalytic function or structural stability and indicate the potential utility of these mutations for molecular diagnosis of this rare disease.","publication_date":{"day":null,"month":null,"year":2004,"errors":{}},"publication_name":"Human Mutation"},"translated_abstract":"Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from four unrelated sialidosis patients was screened for mutations within the sialidase gene NEU1. Five novel mutations were identified. Four are missense and one is nonsense: c.674G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.R225P), c.893C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.A298V), c.3G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.M1?), c.941C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;G (p.R341G), and c.69G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.W23X). We have used our findings and diagnostic tools to confirm the presence of a homozygous null allele in a neonate sibling. Recombinant adenoviruses expressing the mutant sialidase alleles in primary cell cultures were utilized to assess the impact of each mutation on enzyme activity and intracellular localization. None of the mutant alleles expressed significant enzymatic activity. The p.R341G mutation exerts its pathological effect by perturbing substrate binding, while the p.A298V and p.R225P mutations appear to impair the folding of the sialidase enzyme. 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Weisz, JR, Weiss, B., Alicke, MD and Klotz, ML 1987. ... [CrossRef] View all references). Two...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">... Weisz, JR, Weiss, B., Alicke, MD and Klotz, ML 1987. ... [CrossRef] View all references). Two studies challenge the use of individual therapies with ethnic minority children and adolescents with severe behaviour problems (Szapocznik, 1989; Weiss, Catron &amp;amp; Harris, 200058. ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="21094797"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="21094797"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 21094797; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=21094797]").text(description); $(".js-view-count[data-work-id=21094797]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 21094797; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='21094797']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 21094797, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=21094797]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":21094797,"title":"Counselling children and young people: A review of the evidence for its effectiveness","translated_title":"","metadata":{"abstract":"... 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Method: The study adopted three research methods: desk research (a literature review), a quantitative survey, and</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="21094796"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="21094796"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 21094796; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=21094796]").text(description); $(".js-view-count[data-work-id=21094796]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 21094796; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='21094796']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 21094796, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=21094796]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":21094796,"title":"School counselling in Wales: Recommendations for good practice","translated_title":"","metadata":{"abstract":"Aims: This paper presents the context, methodologies and findings of a research project commissioned by the Welsh Assembly Government to evaluate school counselling and services available to children and young people in the UK and to make recommendations for future service development in Wales. 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href="https://www.academia.edu/20709332/Randomised_controlled_trial_of_school_based_humanistic_counselling_for_emotional_distress_in_young_people_Feasibility_study_and_preliminary_indications_of_efficacy"><img alt="Research paper thumbnail of Randomised controlled trial of school-based humanistic counselling for emotional distress in young people: Feasibility study and preliminary indications of efficacy" class="work-thumbnail" src="https://attachments.academia-assets.com/41518462/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/20709332/Randomised_controlled_trial_of_school_based_humanistic_counselling_for_emotional_distress_in_young_people_Feasibility_study_and_preliminary_indications_of_efficacy">Randomised controlled trial of school-based humanistic counselling for emotional distress in young people: Feasibility study and preliminary indications of efficacy</a></div><div class="wp-workCard_item wp-workCard--coauthors"><span>by </span><span><a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/NancyRowland">Nancy Rowland</a>, <a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/KatherineMcArthur">Katherine McArthur</a>, and <a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/SusanPattison">Susan Pattison</a></span></div><div class="wp-workCard_item"><span>Child and Adolescent Psychiatry and Mental Health</span><span>, 2010</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="95bd2afd5c74f036642b65710bb556f8" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" 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href="https://www.academia.edu/21094795/The_delivery_of_a_survivors_group_for_learning_disabled_women_with_significant_learning_disabilities_who_have_been_sexually_abused"><img alt="Research paper thumbnail of The delivery of a survivors’ group for learning disabled women with significant learning disabilities who have been sexually abused" class="work-thumbnail" src="https://attachments.academia-assets.com/41712179/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/21094795/The_delivery_of_a_survivors_group_for_learning_disabled_women_with_significant_learning_disabilities_who_have_been_sexually_abused">The delivery of a survivors’ group for learning disabled women with significant learning disabilities who have been sexually abused</a></div><div class="wp-workCard_item"><span>British Journal of Learning Disabilities</span><span>, 2007</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="c070b95f011d15761914176228ab0310" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":41712179,"asset_id":21094795,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/41712179/download_file?st=MTczMzAxMjM2NSw4LjIyMi4yMDguMTQ2&st=MTczMzAxMjM2NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="21094795"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa 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$('.js-work-strip[data-work-id=21094795]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":21094795,"title":"The delivery of a survivors’ group for learning disabled women with significant learning disabilities who have been sexually abused","translated_title":"","metadata":{"grobid_abstract":"• People with learning disabilities are more likely to experience sexual things happening to them when they do not want them to. 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young people with learning disabilities in counselling in secondary schools in the UK</a></div><div class="wp-workCard_item"><span>British Journal of Guidance & Counselling</span><span>, 2010</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">This paper presents a proactive process to include young people with learning disabilities in mai...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">This paper presents a proactive process to include young people with learning disabilities in mainstream counselling in secondary schools in the UK based on the findings of a consequential mixed methods research study. 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