Clinical Research Directory

Health Engagement & Access Through Learning, Training, and Health-coaching With People With Intellectual and/or Developmental Disabilities

The purpose of this study is to see if a combination of an educational curriculum and health coaching embedded within Special Olympics improves health outcomes and healthcare access compared to regular Special Olympics sport and health programming for adults with intellectual and/or developmental disabilities.

Genome Medical Sequencing for Gene Discovery

Background: \- A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients. Objectives: * To identify the genetic cause of disorders that are difficult to identify with existing techniques. * To develop best practices for the medical and counseling challenges of genome sequencing. Eligibility: * Individuals who have one of the rare disorders under consideration in this study. These conditions are generally those in which the genetic cause of the disorder is unknown. The eligibility of most individual participants will be decided on a case-by-case basis by the researchers. * Family members of affected individuals, if that family member (often a parent) may provide genetic information. Design: Participants in this study will have at least one and in some cases several of the following procedures: * A medical genetics evaluation. * Other tests that may include x-rays, magnetic resonance imaging (MRI) exams, and consultations with other doctors. Not all studies are necessary for each person, but the information from the tests may be required to proceed with some of our gene sequencing studies. * Clinical photographs to document certain aspects of the disorder. * Blood, saliva, and skin biopsy samples, or other tissue samples, as required by the study doctors. * Genetic testing, as decided by the researchers. However, most participants in this study can expect to undergo genome sequencing, which is a technique to study all of a person s genes. * Participants will have choices about what kinds of results from genome sequencing they wish to learn. * After the tests have been completed and the results of the genetic studies are known, participants may be offered a return visit to the National Institutes of Health to learn these results, or the results may be returned by telephone or by a participant's home provider.

Nature and Frequency of Genetic Abnormalities and Associated Phenotypes in a Cohort of Adults With Intellectual Disability

Intellectual disability (ID) is characterized by having an intelligence quotient (IQ) below 70 and substantial limitations in adaptive functioning across different domains, with the condition manifesting before the age of 18. Historically, it was noted that 25% of ID cases were attributed to acquired causes such as perinatal anoxia or infections, another 25% were linked to genetic factors, and the remaining 50% had an 'undetermined' cause. However, with advancements in genetic diagnosis, the proportion of cases with unknown causes is gradually diminishing, giving way to a greater understanding of genetic etiologies. The rarity of each of these causes of ID and the lack of specificity of most of the syndromes mean that it is often difficult to make an aetiological diagnosis. The objective of this study is to describe the nature and frequency of genetic abnomalties identified in adult patients with intellectual disability. This is a descriptive, retrospective and prospective study that aim to include 1000 patients across 10 centres aged over 20 years old on consultation between 2016 to 2025 who have been informed (where applicable, the guardian), who have not oppose to participate and who meet the inclusion and non-inclusion criteria. Each centre will include and increment a patient identification number for pseudonymisation of reports. A name correspondence table will be maintained by each center to establish a link between the research identifier and the participant's identity. Each table will be stored on each centre's secure server. The anonymized reports will be transmitted to the coordinating team through the secure Dispose platform, which will transfer all the participants' data to a REDCap APHP database. Descriptive statistic will be performed to count the number of patients with the same genetic syndrome. The age of onset of comorbidities and the proportion of each complication by syndromes will be calculated for all patient, including the means and median.

An Evaluation of Care (Education) and Treatment Reviews for People With Learning Disabilities and Autistic People

Aims In this research project, we will determine whether Care (Education) and Treatment Reviews are helpful for people with learning disabilities and autistic people and their families. Background Care (Education) and Treatment Reviews were started in 2014 to help get autistic people and people with learning disabilities out of psychiatric hospitals and to prevent their admission to psychiatric hospitals. Care (Education) and Treatment Reviews involve an independent panel including an Expert by Experience, a clinician, and a commissioner who is responsible for paying for an individual's care. The autistic person or the person with learning disability and their family also attend the meeting. The focus of a Care (Education) and Treatment Review is to either prevent a person from being admitted to a psychiatric hospital in the first place, or to help someone who is already in hospital, get out. They do this by trying to work out ways to overcome barriers that might be stopping someone from leaving hospital. However, we do not know if Care (Education) and Treatment Reviews stop people from being admitted to a psychiatric hospital in the first place, or help people already in hospital get out. Method Our project has four stages. In Stage 1 we will work with the members of our Lived Experience Advisory Panels to co-produce survey questions. We will design surveys for people with learning disabilities and autistic people, families and carers, Care (Education) and Treatment Reviews panel members, and health and social care professionals to complete. We will share these surveys with as many people as we can nationally. We will make adjustments so that people with learning disabilities can take part in our surveys. We know that individuals with moderate to severe learning disabilities and younger children will not be able to complete the surveys and so we will use other ways to gather their views and experiences. We will also try to work out how much it costs to have a Care (Education) and Treatment Review . Within Stage 2, we will find out how patients in hospital are doing over time, by attending Care (Education) and Treatment Reviews, CPA, and other patient meetings. We will ask people, including people with moderate and severe learning disabilities to take part in some interviews with us, ensuring we adapt the interview process, so it is accessible. We will use the information from these interviews to work out whether Care (Education) and Treatment Reviews are helping people and making things better. In Stage 3, we will look at the anonymous data that is collected by the NHS about everyone with a learning disability or autism who is admitted to hospital. We will work out what sorts of things helped them and what sorts of things did not help them get out of hospital. We think we will have data that covers over 11 years. Within our final stage, Stage 4, we will bring together all of the information we have collected from the different stages of the research to work out what it tells us. We will use the information along with input from our Lived Experience Advisory Panel members to co-produce and share reports and information about what we have found out. We will also co- develop and publish good practice guidance for doing Care (Education) and Treatment Reviews and make sure our guidance is shared in different ways and to different people who need it. Patient/public involvement We have partnered with Learning Disability England, the National Autistic Society, and the Challenging Behaviour Foundation who will each lead one of our three Lived Experience Advisory Panels: (1) people with learning disabilities, (2) autistic people, and (3) carers and family members. We will have regular meetings with each Lived Experience Advisory Panel to make sure we they can provide input throughout the study. They will help us to design the surveys and interviews, interpret our findings, share the findings and co-produce and publish our good practice guidance in different formats for different target audiences. Each advisory panel will meet separately but we will bring them together once a year to benefit from their combined input. Our project has been developed collaboratively with Learning Disability England, the National Autistic Society, and the Challenging Behaviour Foundation who all have experience of being involved within Care (Education) and Treatment Reviews. Learning Disability England, the National Autistic Society, and the Challenging Behaviour Foundation will be core members of our study management and study steering committees. Further, a nurse with significant learning disability and autism experience, Expert-by-Experience, and Care (Education) and Treatment Review panel chair is a co-researcher. A carer of a man with severe learning disability is also a co-researcher.

Behavioural Activation and Severe Learning Disabilities

Research shows that people with severe learning disabilities get depressed at least as often as the wider population. Psychological therapies are recommended to treat depression, and some of these have been adapted for those people with learning disabilities who can talk about their problems. No research has properly tested a psychological therapy for people with severe learning disabilities and any mental health problem. The investigators recently completed a study that tested a psychological therapy (behavioural activation) for people with mild learning disabilities and depression. Behavioural activation improves people's mood by helping them to re-engage in activity that has meaning and purpose for them, rather than relying on talking or thinking skills. Because of this behavioural activation might be promising for people with severe learning disabilities and depression. Along with PAMIS, an organisation for families of people with more profound disabilities, the investigators have adapted the therapy for this group. The investigators now want to find out if it would be possible to carry out a research project about whether behavioural activation works for depressed adults with severe learning disabilities. This is called a feasibility study. The investigators would see if it is possible to recruit 50 adults with severe learning disabilities, and if they are willing to be randomly placed in a group who get behavioural activation or a group who get usual help from services. Other information about running a study would be collected, including about keeping in contact with participants and what measures are needed to find out if change is happening.

Shared Interactive Book Reading in Preschool Children With Neurodevelopmental Disorders: Effects on Language Development and Reading Habits

The goal of this observational retrospective study is to explore the effects of a parent-based book reading intervention on children with neurodevelopmental disorders. The project consisted of interactive lessons for parents and shared reading experiences. It took place between May 2021 and June 2022 in Rome and at the time children were receiving neuropsychomotor and speech therapy sessions based on the developmental profile. The investigators'primary goal is to investigate lexical quotients of children who participated in the project to explore whether it had an impact on their language development. The secondary goal is to assess shared reading habits. For both outcome measures, researchers will compare the group who partecipated in the study with a cohort of children with the same characteristics who also attended Fondazione Don Carlo Gnocchi for rehabilitation purposes. Patients and their family will not be asked for any further engagement because all data will be taken from medical records.

Online Video Training for Teachers to Improve Reading Skills in Children Using Augmentative and Alternative Communication

The aim of this study is to investigate , via a randomized control trial (RCT), the effectiveness of an online video training platform designed for teachers to support the improvement of basic reading skills of children with intellectual disabilities (ID) who require augmentative and alternative communication (AAC). This intervention will include 14 schools and 70 students with ID who require AAC age 6-14 years old. The research question is: 1\) What is the difference between online video training and in-person training on improving word-level readig skills and phonological awareness? The students will work with a reading material, Reading for All, that follow the strategies of Accessible Literacy Learning, developed by Janice Light and David McNaughton. Reading for All is based on the research of Janice Light and David McNaughton. The reading material are adapted for AAC-users and the students can answer with pointing or their AAC-systems. Teachers will implement the instructions at the students familiar place at school for three to five days, each week, for a year. The reading material consist of tasks in sound blending, letter-sound correspondence, phoneme segmentation, sight words, shared reading and decoding. The teachers will use evidence based, systematic and explicit instructions and immediate and corrective feedback

Reading Intervention for Children With Intellectual Disabilities Who Require Augmentative and Alternative Communication

The goal of this multiple single case study with multiple randomized baseline (with four starting points and 18 measurements across time) is to conduct a reading intervention for 40 children with intellectual disabilities who require augmentative and alternative communication (AAC). The main questions to answer are: 1. Is there a functional relation between the use of "Lesing for alle" (Reading for all) and increased accuracy of sound blending by students age 6-14 with intellectual disabilities who require AAC? 2. Is there a functional relation between the use of "Lesing for alle" (Lesing for alle) and improved acquisition of letter sound correspondence by students age 6-14 with intellectual disabilities who require AAC? 3. Is there a functional relation between the use of "Lesing for alle" (Reading for all) and improved acquisition of phoneme segmentation by students age 6-14 with intellectual disabilities who require AAC? 4. Is there a functional relation between the use of "Lesing for alle" (Reading for all) and improved acquisition of recognition of sight words by students age 6-14 with intellectual disabilities who require AAC? 5. Is there a functional relation between the use of "Lesing for alle" (Reading for all) and improved acquisition of decoding by students age 6-14 with intellectual disabilities who require AAC? 6. Is there a positive and strong correlation between increasing skills from 1-3 and 4-5? Meaning, is there a transfer from lower level skills (phonological skills) to decoding skills? The participants (age 6-14) will receive daily instruction in a reading material that follows all the strategies of Accessible Literacy Learning, developed by Janice Light and David McNaughton. It is the teachers who will carry out the teaching in the students fixed and familiar place at school. The reading material consist of tasks in sound blending, letter-sound correspondence, phoneme segmentation, sight words and decoding. The reading material will use explicit instruction, distributed and cumulative practice, and immediate and corrective feedback. The intervention will take place for a total of 18 months.