98%
921
2 minutes
20
Limited published literature exists demonstrating functional relations between idiosyncratic responses or augmentative alternative communication (AAC) and social reinforcement for individuals with Rett syndrome. In this study, six females with Rett syndrome ages 2-25 demonstrated requesting for preferred items using both idiosyncratic responses (e.g, looking, reaching) and AAC (e.g. single response microswitches). Researchers connected remotely via telehealth to coach caregivers to implement all sessions in home environments. Researchers individualized response prompt delays during AAC sessions (request/mand training) based on each participants' latency to respond during baseline. Implications for practice and directions for future research are discussed.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1080/17518423.2023.2301617 | DOI Listing |
Qual Life Res
September 2025
The Kids Research Institute Australia, The University of Western Australia, P.O. Box 855, West Perth, WA, 6872, Australia.
Purpose: CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Greater understanding of the smallest meaningful improvements for individuals with CDD in clinical trials and practice is needed for a person-centred approach to treatment efficacy. This study explored how parent/caregivers of people with CDD understood meaningful improvements and described change for priority functional domains including communication, gross motor, fine motor, feeding.
View Article and Find Full Text PDFPharmacoeconomics
September 2025
Center for Innovation and Value Research, Alexandria, VA, USA.
Manufacturers of orphan drugs face several obstacles in meeting health technology assessment requirements because of poor availability of natural history data, small sample sizes, single-arm trials, and a paucity of established disease-specific endpoints. There is a need for specific considerations and modified approaches in health technology assessments that would account for the challenges in orphan drug development. Multistakeholder collaborations can benefit patients, their families, and the broader society and reduce the inequity faced by patients with rare diseases.
View Article and Find Full Text PDFOrphanet J Rare Dis
September 2025
Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.
Background: Rett Syndrome (RTT) is a rare, and severe neurodevelopmental disorder that primarily affects females and is primarily (> 96%) due to pathogenic loss-of-function genetic variants of methyl-CpG-binding protein 2 (MECP2). Despite the rarity of the syndrome, sporadic twin cases have been reported. The descriptions have often focused on the phenotype, emphasizing differences or similarities.
View Article and Find Full Text PDFJCEM Case Rep
October 2025
Department of Pediatrics, Rhode Island Hospital/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University, Providence, RI 02903, USA.
Individuals with Noonan syndrome (NS) are predisposed to hematologic cancers, solid tumors, and low-grade gliomas. We report an 8-year-old girl originally referred at age 14 months for short stature, developmental delay, and failure to thrive who was subsequently found to have pathogenetic variants both in and Family history included a maternal half-sister with NS and a mother carrying the mutation. Familial single-gene testing showed a heterozygous pathogenic variant in (c.
View Article and Find Full Text PDFFront Drug Discov (Lausanne)
February 2025
Department of Internal Medicine, University of California Davis Medical Center, Sacramento, CA, United States.
Introduction: Rett Syndrome is a genetic neurodevelopmental disorder caused by decreased levels of MeCP2. Due to mutations in the gene, insufficient MeCP2 protein levels lead to clinical phenotypes including the loss of normal movement, decreased communication, seizures, sleep disorders, and breathing problems. Currently there is no cure for Rett Syndrome and the only means to help patients is palliative care directed to their specific symptoms.
View Article and Find Full Text PDF