Publication Date
| In 2024 | 2 |
| Since 2023 | 5 |
| Since 2020 (last 5 years) | 15 |
| Since 2015 (last 10 years) | 26 |
| Since 2005 (last 20 years) | 85 |
Descriptor
| Genetic Disorders | 59 |
| Females | 51 |
| Neurological Impairments | 45 |
| Autism | 38 |
| Children | 32 |
| Symptoms (Individual… | 29 |
| Genetics | 28 |
| Clinical Diagnosis | 26 |
| Mental Retardation | 26 |
| Pervasive Developmental… | 26 |
| Foreign Countries | 22 |
| More ▼ | |
Source
Author
Publication Type
Education Level
| Elementary Education | 4 |
| Elementary Secondary Education | 2 |
| Grade 5 | 1 |
| Primary Education | 1 |
| Secondary Education | 1 |
Audience
| Practitioners | 6 |
| Researchers | 5 |
| Parents | 3 |
| Teachers | 2 |
Location
| Australia | 10 |
| Norway | 2 |
| Austria | 1 |
| California | 1 |
| Canada | 1 |
| Europe | 1 |
| Japan | 1 |
| Kansas | 1 |
| Lebanon | 1 |
| Netherlands | 1 |
| New Zealand | 1 |
| More ▼ | |
Laws, Policies, & Programs
| Family Educational Rights and… | 1 |
Assessments and Surveys
| Vineland Adaptive Behavior… | 2 |
| Developmental Behavior… | 1 |
| Mullen Scales of Early… | 1 |
| Parenting Stress Index | 1 |
| Strengths and Difficulties… | 1 |
What Works Clearinghouse Rating
Peer reviewed
Direct linkWalker, Ellen M.; Crawford, Frances; Leonard, Helen – Journal of Intellectual & Developmental Disability, 2014
Background: People who have profound intellectual and multiple disabilities face significant challenges to participating in their community and are reported to have few friends. In this paper, the issue of how this is addressed by parent-carers of young women with Rett syndrome is explored. Method: Transcripts of in-depth interviews with 6…
Descriptors: Parents, Genetic Disorders, Daughters, Interpersonal Relationship
Byiers, Breanne J.; Payen, Ameante; Feyma, Timothy; Panoskaltsis-Mortari, Angela; Ehrhardt, Michael J.; Symons, Frank J. – American Journal on Intellectual and Developmental Disabilities, 2020
Rett syndrome (RTT) is a severe neurodevelopmental disorder resulting from mutations of the MECP2 gene. Hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis and abnormal stress responses have been observed in animal models of RTT, but little is known about HPA axis function among individuals with RTT. Diurnal salivary cortisol patterns…
Descriptors: Neurological Impairments, Genetic Disorders, Females, Severe Disabilities
Marschik, Peter B.; Kaufmann, Walter E.; Sigafoos, Jeff; Wolin, Thomas; Zhang, Dajie; Bartl-Pokorny, Katrin D.; Pini, Giorgio; Zappella, Michele; Tager-Flusberg, Helen; Einspieler, Christa; Johnston, Michael V. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2013
We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome ("MECP2" positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of…
Descriptors: Pathology, Video Technology, Language Acquisition, Genetic Disorders
Ruparelia, Aarti; Pearn, Matthew L.; Mobley, William C. – Developmental Disabilities Research Reviews, 2013
Down syndrome (DS) is one of many causes of intellectual disability (ID), others including but not limited to, fetal alcohol syndrome, Fragile X syndrome, Rett syndrome, Williams syndrome, hypoxia, and infection. Down syndrome is characterized by a number of neurobiological problems resulting in learning and memory deficits and early onset…
Descriptors: Aging (Individuals), Older Adults, Mental Retardation, Down Syndrome
Wei, Xing – ProQuest LLC, 2023
In language learning, aided language modeling refers to the method by which communication partners provide models of the communication system used by individuals with complex communication repertoires that involving both symbols and speech. Providing aided language models creates opportunities for individuals with complex communication repertoires…
Descriptors: Models, Speech Communication, Receptive Language, Expressive Language
Pari, Elisa; Cozzi, Francesca; Rodocanachi Roidi, Marina Luisa; Grange, Francesca; Toshimori, Kumiko; Ripamonti, Enrico – Journal of Applied Research in Intellectual Disabilities, 2020
Background: Although lives of parents of girls with Rett syndrome (RTT) are centred on the process of care, in the current literature their perceived levels of stress have been rarely investigated. Methods: We analysed levels of stress in a sample of 79 fathers and mothers parenting girls with RTT, who were required to compile the Parenting Stress…
Descriptors: Child Rearing, Caregiver Role, Parent Caregiver Relationship, Females
Raspa, Melissa; Bann, Carla M.; Gwaltney, Angela; Benke, Timothy A.; Fu, Cary; Glaze, Daniel G.; Haas, Richard; Heydemann, Peter; Jones, Mary; Kaufmann, Walter E.; Lieberman, David; Marsh, Eric; Peters, Sarika; Ryther, Robin; Standridge, Shannon; Skinner, Steven A.; Percy, Alan K.; Neul, Jeffrey L. – American Journal on Intellectual and Developmental Disabilities, 2020
Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females. Recent work indicates the potential for disease modifying therapies. However, there remains a need to develop outcome measures for use in clinical trials. Using data from a natural history study (n = 1,075), we examined the factor structure, internal consistency,…
Descriptors: Genetic Disorders, Psychometrics, Psychomotor Skills, Physical Disabilities
Dyke, Paula; Bourke, Jenny; Llewellyn, Gwynnyth; Leonard, Helen – Journal of Intellectual & Developmental Disability, 2013
Background: The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school environment to an emerging adult life that may be characterised by a wide variation in adoption of adult roles related to employment, independent living, friendships, and day…
Descriptors: Quality of Life, Independent Living, Friendship, Attitude Measures
Hettiarachchi, D.; Neththikumara, N. F.; Pathirana, B. A. P. S.; Dissanayake, V. H. W. – Journal of Autism and Developmental Disorders, 2020
Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 ("MECP2") of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in…
Descriptors: Foreign Countries, Genetic Disorders, Females, Neurological Impairments
Lane, Jane B.; Salter, Amber R.; Jones, Nancy E.; Cutter, Gary; Horrigan, Joseph; Skinner, Steve A.; Kaufmann, Walter E.; Glaze, Daniel G.; Neul, Jeffrey L.; Percy, Alan K. – Journal of Autism and Developmental Disorders, 2017
Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi…
Descriptors: Caregivers, Caregiver Attitudes, Test Reliability, Test Validity
Hendrie, Delia; Bebbington, Ami; Bower, Carol; Leonard, Helen – Research in Autism Spectrum Disorders, 2011
This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors on costs. The study population consisted of individuals with Rett syndrome registered with the Australian Rett Syndrome Database in 2004. Descriptive analysis was used to examine patterns…
Descriptors: Residential Care, Age Differences, Genetic Disorders, Females
Wei, Xing; Bhattacharya, Usree – Child Language Teaching and Therapy, 2023
Aided augmentative and alternative communication (AAC) modeling is an important approach to facilitating language learning for individuals with complex communication repertoires. This study examines the implementation of this approach during COVID-19 virtual schooling. Key implementation challenges are identified, along with implications for…
Descriptors: Augmentative and Alternative Communication, COVID-19, Pandemics, Distance Education
Reichow, Brian; George-Puskar, Annie; Lutz, Tara; Smith, Isaac C.; Volkmar, Fred R. – Journal of Autism and Developmental Disorders, 2015
Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2…
Descriptors: Genetic Disorders, Neurological Impairments, Child Development, Gender Differences
Robinson, Holly; Pozzo-Miller, Lucas – Learning & Memory, 2019
Gene transcription is a crucial step in the sequence of molecular, synaptic, cellular, and systems mechanisms underlying learning and memory. Here, we review the experimental evidence demonstrating that alterations in the levels and functionality of the methylated DNA-binding transcriptional regulator MeCP2 are implicated in the learning and…
Descriptors: Genetics, Learning, Memory, Animals
Download full textMulrine, Christopher F.; Kollia, Betty – Journal of Education and Learning, 2020
Autism Spectrum Disorder (ASD) was for many years considered to be one of five pervasive developmental disorders (PDD) as defined in the 4th edition of the Diagnostic Statistical Manual of Mental Disorders (DSM-IV-TR) published by the American Psychiatric Association (APA, 2000). These disorders included Autism, Rett Syndrome, Childhood…
Descriptors: Autism, Pervasive Developmental Disorders, Interpersonal Communication, Communication Skills
