scholarly journals A Systematic Review of Unexplained Early Regression in Adolescents and Adults with Down Syndrome

2021 ◽  
Vol 11 (9) ◽  
pp. 1197
Author(s):  
Madeleine Walpert ◽  
Shahid Zaman ◽  
Anthony Holland
Keyword(s):  
Down Syndrome ◽  
Current Evidence ◽  
Partial Recovery ◽  
Daily Lives ◽  
Level Of Functioning ◽  
Raising Awareness ◽  
Controlled Treatment ◽  
Previous Level ◽  
Adolescents And Adults ◽  
Potential Trigger

A proportion of young people with Down syndrome (DS) experience unexplained regression that severely impacts on their daily lives. While this condition has been recognised by clinicians, there is a limited understanding of causation and an inconsistent approach to diagnosis and treatment. Varied symptomology and little knowledge of the cause of this regression have impacted on clinician’s ability to prevent or manage this condition. The purpose of this review was to examine the current evidence surrounding unexplained regression in adolescents and young adults, and to establish patterns that may be of use to clinicians, as well as raising awareness of this condition. Four areas were specifically reviewed, (1) terminology used to refer to this condition, (2) the symptoms reported, (3) potential trigger events and, (4) treatments and prognosis. A variety of terminology is used for this condition, which has constrained past attempts to identify patterns. An extensive number of symptoms were reported, however sleep impairment, loss of language and distinct changes in personality and behaviour, such as disinterest and withdrawal, were among the most frequently seen. Life events that were tentatively associated with the onset of a regressive period included a significant change in environmental circumstances or a transition, such as moving home or leaving school. Prognosis for this condition is relatively positive with the majority of individuals making at least a partial recovery. However, few patients were found to make a full recovery to their previous level of functioning and serious adverse effects could persist in those who have made a partial recovery. This is an under-researched condition with significant impacts on people with DS and their families. There are no established treatments for this condition and there is relatively little recognition in the research community. Further studies that focus on the prevention and treatment of this condition with controlled treatment trials are needed.

Postintravenous immunoglobulin stroke in a toddler with Down syndrome: a diagnostic challenge

2020 ◽  
Vol 13 (5) ◽  
pp. e233149 ◽  
Author(s):  
Teck-Hock Toh ◽  
Everlyn Coxin Siew ◽  
Chae-Hee Chieng ◽  
Hussain Imam Mohd Ismail
Keyword(s):  
Down Syndrome ◽  
Cerebral Arteries ◽  
Severe Pneumonia ◽  
Cerebral Vessels ◽  
Partial Recovery ◽  
Diagnostic Challenge ◽  
Middle Cerebral Arteries ◽  
Collateral Vessels ◽  
Carotid Doppler

Children with Down syndrome have a higher risk of stroke. Similarly, intravenous immunoglobulin (IV Ig) is also known to cause a stroke. We reported a 3-year-old boy with Down syndrome who presented with severe pneumonia and received IV Ig. He developed right hemiparesis 60 hours after the infusion. Blood investigations, echocardiography and carotid Doppler did not suggest vasculitis, thrombophilia or extracranial dissection. Brain computerised tomography (CT) showed acute left frontal and parietal infarcts. Initial magnetic resonance angiography (MRA) of cerebral vessels showed short segment attenuations of both proximal middle cerebral arteries and reduction in the calibre of bilateral supraclinoid internal carotid arteries. The boy was treated with enoxaparin and aspirin. He only had partial recovery of the hemiparesis on follow-up. A repeat MRA 13 months later showed parenchymal collateral vessels suggestive of moyamoya disease. We recommend imaging the cerebral vessels in children with a high risk of moyamoya before giving IV Ig.

Clozapine: the Holywell experience with the first 24 patients

1993 ◽  
Vol 10 (1) ◽  
pp. 30-34 ◽  
Author(s):  
David J King ◽  
Philip J Mills
Keyword(s):  
Antipsychotic Drugs ◽  
Chronic Schizophrenic ◽  
Level Of Functioning ◽  
Duration Of Illness ◽  
Previous Level

AbstractClozapine was substituted for standard antipsychotic drugs in the treatment of 24 chronic schizophrenic inpatients and the response assessed after a mean of ten months. The majority (71%) improved (33.3% markedly), on their previous level of functioning. The response was better in those under 40 years of age, but neither duration of illness nor previous neuroleptic dose appeared to predict response to clozapine. The drug was ultimately discontinued in five (21%) patients – in three because of non-response and intolerance of sedation and in two because of neutropenia.

scholarly journals Epigallocatechin-3-Gallate Improves Facial Dysmorphology Associated with Down Syndrome

2018 ◽  
Author(s):  
John M. Starbuck ◽  
Sergi Llambrich ◽  
Ruben González ◽  
Julia Albaigès ◽  
Anna Sarlé ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Chromosome 21 ◽  
Current Evidence ◽  
High Dose ◽  
Facial Morphology ◽  
Egcg Treatment ◽  
Health Promoting ◽  
Potential Benefits ◽  
Facial Development ◽  
First Time

AbstractIn Down syndrome (DS), the overall genetic imbalance caused by trisomy of chromosome 21 leads to a complex pleiotropic phenotype that involves a recognizable set of facial traits. Several studies have shown the potential of epigallocatechin-3-gallate (EGCG), a green tea flavanol, as a therapeutic tool for alleviating different developmental alterations associated with DS, such as cognitive impairment, skull dysmorphologies, and skeletal deficiencies. Here we provide for the first time experimental and clinical evidence of the potential benefits of EGCG treatment to facial morphology. Our results showed that mouse models treated with low dose of EGCG during pre- and postnatal development improved facial dysmorphology. However, the same treatment at high dose produced disparate facial morphology changes with an extremely wide and abnormal range of variation. Our observational study in humans revealed that EGCG treatment since early in development is associated with intermediate facial phenotypes and significant facial improvement scores. Overall, our findings suggest a potential beneficial effect of ECGC on facial development, which requires further research to pinpoint the optimal dosages of EGCG that reliably improve DS phenotypes. Current evidence warns against the non-prescribed intake of this supplement as a health-promoting measure.

scholarly journals Identifying network structure, influencers and social mood in digital spheres: A sentiment and content analysis of down syndrome awareness

2018 ◽  
Vol 10 (1) ◽  
pp. 10-19
Author(s):  
Sunagul Sani Bozkurt
Keyword(s):  
Down Syndrome ◽  
Content Analysis ◽  
Social Network ◽  
Social Awareness ◽  
Daily Lives ◽  
Multiple Dimensions ◽  
The Social ◽  
Diverse Backgrounds ◽  
Online Spaces ◽  
Research Findings

AbstractDown syndrome is a sensitive subject and one that requires efforts being made to improve conditions of individuals with Down syndrome across multiple dimensions. Social awareness is one of the important dimensions for the inclusion of individuals with Down syndrome. Online spaces as well as offline spaces are an important part of our daily lives, and these spaces provide numerous opportunities to create, increase and sustain awareness of Down syndrome. From this perspective, this study examines the awareness of Down syndrome in online spaces. With this objective in mind, the research examined 4,168 conversations from 2,430 individuals that were posted in a microblogging service on WDSD. The research findings indicate that the Down syndrome network is distributed in time and space with diverse backgrounds. Key influencers were those who were already associated with Down syndrome. Furthermore, the social mood for Down syndrome was found to be positive.Keywords: Down syndrome, World Down Syndrome Day, Down syndrome awareness, social network analysis, sentiment analysis.*

scholarly journals Challenging rigidity in Anorexia (treatment, training and supervision): questioning manual adherence in the face of complexity

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Annaleise Robertson ◽  
Chris Thornton
Keyword(s):  
Eating Disorders ◽  
Anorexia Nervosa ◽  
Readiness To Change ◽  
Current Evidence ◽  
Future Research ◽  
Treatment Protocols ◽  
Strict Adherence ◽  
Training And Supervision ◽  
Adolescents And Adults ◽  
Treatment Manuals

Abstract Background Anorexia Nervosa is a debilitating illness. While there have been many advancements to treatment protocols and outcomes for people with eating disorders, the field acknowledges there remains considerable room for improvement. This timely Special Edition of the Journal of Eating Disorders has invited those of us in the field to consider a range of topics in aid of this task, including potential modifications and implementation of evidence-based practice, specific and common psychotherapy factors, treatment manuals, adherence and individualising treatment approaches for individuals and families. Body In this paper, we briefly outline the key manualised treatments currently available to treat children, adolescents and adults with Anorexia Nervosa, considering the benefits, potential reasons for adaptations and limitations. We then review the current evidence for training strict adherence to treatment manuals which is often a key focus in training and supervision, questioning the association of increased treatment adherence with improved therapeutic outcome. We then summarise some key evidence behind other therapeutic factors which have been demonstrated to affect outcome regardless of which manual is implemented, such as readiness to change and therapeutic alliance. Conclusion The paper concludes with implications and considerations for future research, clinical guidelines, training and supervision, highlighting the need to consider the therapeutic relationship and processes alongside manual content to conduct best evidence-informed practice.

scholarly journals Description of Daily Living Skills and Independence: A Cohort from a Multidisciplinary Down Syndrome Clinic

2021 ◽  
Vol 11 (8) ◽  
pp. 1012
Author(s):  
Kavita Krell ◽  
Kelsey Haugen ◽  
Amy Torres ◽  
Stephanie L. Santoro
Keyword(s):  
Down Syndrome ◽  
Life Skills ◽  
Massachusetts General Hospital ◽  
Personal Information ◽  
Adult Patients ◽  
Healthy Foods ◽  
Living Situation ◽  
Adolescents And Adults ◽  
Living Skills ◽  
Clinic Population

Levels of independence vary in individuals with Down syndrome (DS). We began this study to describe the current life skills in our clinic population of children and adults with DS. We collected and reviewed demographics, living situation, and life skills from an electronic intake form used in clinic procedures. Descriptive statistics for this cohort study included mean, standard deviation, and frequencies. From 2014–2020, 350 pediatric and 196 adult patients (range 0–62 years) with a first visit to the Massachusetts General Hospital Down Syndrome Program are described. Pediatric patients were most often enrolled in school, and in an inclusion setting. Adult patients were most often participating in a day program, living with family, and wanted to continue living with family in the future. Most (87%) of adults with DS communicated verbally, though fewer could use written communication (17%). Life skills of greatest importance to adolescents and adults with DS included: learning about healthy foods (35%), preparing meals (34%), providing personal information when needed (35%), and describing symptoms to a doctor (35%). Life skills for patients with DS are varied; those associated with a medical appointment, such as sharing symptoms with the doctor, could improve for greater independence.

scholarly journals Imputación de culpa entre personas con desorden del desarrollo

2016 ◽  
Vol 15 (3) ◽  
Author(s):  
Guadalupe Elizabeth Morales ◽  
Bernadette Rogé
Keyword(s):  
Down Syndrome ◽  
Children With Autism ◽  
Moral Judgement ◽  
Typically Developing ◽  
Adults With Autism ◽  
Blame Attribution ◽  
Basic Rights ◽  
Adolescents And Adults ◽  
Combine Information ◽  
The Way

We synthesize the main findings from two studies that examined moral judgement abilities in people with autism, and in people with Down syndrome. In both studies, the way these people mentally combine information about the intent of a harmful act and the severity of its consequences when attributing blame to an offender was compared with that of typically developing controls. Adolescents and adults with autism or with Down syndrome were, practically to the same extent as controls, able to take into account both information pieces for attributing blame. It would be an exaggeration to imply that adolescents and adults with either autism or Down syndrome are severely immature in moral judgement based on the fact that they are usually not able to explain or justify their judgements with sophisticated philosophical arguments. By contrast, children with autism blame attribution appeared to be essentially based on consequence information. The finding that adolescents and adults with autism or Down syndrome are able to make moral judgements in a way that is not very different from adolescents and adults of the same age could influence the way these people are perceived, cared for, and attributed basic rights.

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