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Direct linkMeghana Wadnerkar Kamble; Jen Dawe; Karen Bunning – Journal of Applied Research in Intellectual Disabilities, 2025
Background: There is limited evidence exploring sibling's perspective in Prader-Willi syndrome research. Objectives: To investigate the experiences and support needs of the siblings of individuals with Prader-Willi syndrome. Methods: This two-stage qualitative study involved siblings aged 11 years onwards (n = 11) and parents (n = 8). Stage 1…
Descriptors: Genetic Disorders, Intellectual Disability, Siblings, Parents
Irene Campos-Sánchez; Eva María Navarrete-Muñoz; Dries S. Martens; Isolina Riaño-Galán; Aitana Lertxundi; Sabrina Llop; Mónica Guxens; Cristina Rodríguez-Dehli; Nerea Lertxundi; Raquel Soler-Blasco; Martine Vrijheid; Tim S. Nawrot; John Wright; Tiffany C. Yang; Rosie McEachan; Kristine Bjerve Gützkow; Vaia Lida Chatzi; Marina Vafeiadi; Mariza Kampouri; Regina Grazuleviciene; Sandra Andrusaityte; Johanna Lepeule; Desirée Valera-Gran – Journal of Attention Disorders, 2025
Objective: To explore the association between telomere length (TL) and attention deficit hyperactivity disorder (ADHD) symptoms in children at 6-12 years. Method: Data from 1,759 children belonging to the HELIX project cohorts and the Asturias, Gipuzkoa and Valencia cohorts of INMA project were included. TL was determined by blood sample using a…
Descriptors: Foreign Countries, Genetic Disorders, Attention Deficit Hyperactivity Disorder, Mothers
Download full textJoel Hooper; Marzieh Azarbadegan; Evie Cogley; Michelle Mackie; Nathan Bransden – UK Department for Education, 2024
In January 2024, building on the Genomics Beyond Health report, the Department for Education (DfE), with co-funding from the Government Office for Science (GO-Science), commissioned Ipsos UK through the Futures Procurement Framework to understand the potential future risks and opportunities of the use of genomics in education. The Government…
Descriptors: Foreign Countries, Genetics, Genetic Disorders, Congenital Impairments
Amy Armstrong-Heimsoth; Abbey Monroe; Camryn Cupp; Nancy Potter; Mark VanDam; Beate Peter – Journal of Occupational Therapy, Schools & Early Intervention, 2024
Speech problems affect about 66% of children with classic galactosemia (CG), but limited evidence is reported on early motor and sensory motor development in this at-risk population. Research has been focused on speech and language development, leaving a paucity of data on motor and sensory differences. This paper describes preliminary data…
Descriptors: Perceptual Development, Perceptual Motor Coordination, Language Acquisition, Infants
Farran, Emily K.; Purser, Harry R. M.; Jarrold, Christopher; Thomas, Michael S. C.; Scerif, Gaia; Stojanovik, Vesna; Van Herwegen, Jo – Developmental Science, 2024
Williams syndrome (WS) is a rare genetic syndrome. As with all rare syndromes, obtaining adequately powered sample sizes is a challenge. Here we present legacy data from seven UK labs, enabling the characterisation of cross-sectional and longitudinal developmental trajectories of verbal and non-verbal development in the largest sample of…
Descriptors: Genetic Disorders, Verbal Communication, Nonverbal Communication, Communication Skills
Pacheco, Sierra – Voices in Education, 2020
The objective of this study was to assess the correlation of the Per3 gene VNTR polymorphism to insomnia patients in Bermuda. Buccal swabs were taken, and DNA was extracted, after which the genotypes of volunteers were characterised by using polymerase chain reaction. There were 25 total volunteers (21 females, 4 males, aged 20-79) that…
Descriptors: Foreign Countries, Genetics, Sleep, Correlation
Krikheli, Lillian; Erickson, Shane; Carey, Lindsay B.; Carey-Sargeant, Christa L.; Mathisen, Bernice A. – International Journal of Language & Communication Disorders, 2020
Background: The involvement of speech and language therapists (SLTs) within paediatric palliative care (PPC) settings has been recognized within the extant literature. However, there is little understanding of SLT's specific roles and practices when working with this vulnerable cohort of children and their families. As part of a larger body of…
Descriptors: Speech Language Pathology, Allied Health Personnel, Pediatrics, Foreign Countries
Tyrer, Freya; Kiani, Reza; Rutherford, Mark J. – Journal of Intellectual & Developmental Disability, 2021
Background: There is a need to systematically compare and contrast mortality predictors and disparities in people with intellectual disabilities (ID) for global prevention strategy development. Method: Bibliographic databases and grey literature were searched using systematic review methodology and the machine learning tool "Abstrackr."…
Descriptors: Intellectual Disability, Death, Predictor Variables, Prevention
Timson, David J. – School Science Review, 2017
Mutations can cause genetic diseases and the vast majority of these have no effective treatment. They raise some difficult questions on the boundaries of science and social science. Selective breeding to "improve" the human race (eugenics) is often regarded as a Victorian relic or Nazi fantasy. Yet, three fetuses with Down syndrome are…
Descriptors: Science Instruction, Genetic Disorders, Genetics, Pregnancy
Skyrme, Sarah – Child Care in Practice, 2017
Semi-structured interviews were conducted with boys and young men who have Duchenne muscular dystrophy (DMD), a severe, degenerative condition that only affects boys. The main focus of the interviews was to explore how the participants thought they might make a decision to take part in medical research. To better understand this, aspects of the…
Descriptors: Semi Structured Interviews, Males, Genetic Disorders, Neurological Impairments
Creer, Sarah; Enderby, Pamela; Judge, Simon; John, Alex – International Journal of Language & Communication Disorders, 2016
Background: Commissioners and providers require information relating to the number of people requiring a service in order to ensure provision is appropriate and equitable for the population they serve. There is little epidemiological evidence available regarding the prevalence of people who could benefit from augmentative and alternative…
Descriptors: Foreign Countries, Augmentative and Alternative Communication, Incidence, Epidemiology
Lane, Chloe; Milne, Elizabeth; Freeth, Megan – Journal of Autism and Developmental Disorders, 2017
Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). As measured by the Social Responsiveness Scale, second edition (SRS-2), 65 participants (83.33%) met clinical cut-off…
Descriptors: Autism, Pervasive Developmental Disorders, Incidence, Symptoms (Individual Disorders)
Thurston, Mhairi – International Journal of Disability, Development and Education, 2014
The challenges of social inclusion and access to the curriculum facing students with visual impairment in schools are well documented. The refreshed UK Vision Strategy (2013) seeks to improve education for students with vision impairment. In order to do this, it is important to understand how students with visual impairment experience education.…
Descriptors: Foreign Countries, Visual Impairments, Genetic Disorders, Congenital Impairments
Theodorou, Nana; Shipman, Tracey – British Journal of Visual Impairment, 2013
A retrospective study was carried out to evaluate the paediatric visual impaired population attending the Low Vision Clinic at Sheffield Teaching Hospitals NHS Foundation Trust, over a period of 14 years. Data were collected and analysed for children less than 17 years for prevalence, demographics, registration status, aetiologies, and types of…
Descriptors: Foreign Countries, Visual Impairments, Children, Assistive Technology
Chinn, Deborah – Asia-Pacific Journal of Health, Sport and Physical Education, 2014
Health literacy research and scholarship has largely overlooked the experiences of people with intellectual disabilities (ID), though growing concern about the health inequalities they face has increasingly given rise to health promotion interventions for this group. However, these interventions reference a rather limited vision of health literacy…
Descriptors: Health Promotion, Knowledge Level, Mental Retardation, Literacy
