Literaturnachweis - Detailanzeige
Autor/in | Berry-Kravis, Elizabeth |
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Titel | Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies |
Quelle | In: American Journal on Intellectual and Developmental Disabilities, 127 (2022) 2, S.90-94 (5 Seiten)Infoseite zur Zeitschrift
PDF als Volltext |
Sprache | englisch |
Dokumenttyp | gedruckt; online; Zeitschriftenaufsatz |
ISSN | 1944-7515 |
Schlagwörter | Genetic Disorders; Intellectual Disability; Autism; Pervasive Developmental Disorders; Neurological Impairments; Developmental Disabilities; Research; Intervention |
Abstract | Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic science and animal models to humans with FXS has proven difficult. These challenges have prompted the FXS field to organize to build interlocking projects to support initiatives to improve supportive care, make clinical research accessible to families, generate collaborative research on natural history and outcome measures, and create clinical trial consortia and novel trial designs. (As Provided). |
Anmerkungen | American Association on Intellectual and Developmental Disabilities. P.O. Box 1897, Lawrence, KS 66044-1897. Tel: 785-843-1235; Fax: 785-843-1274; e-mail: AJMR@allenpress.com; Web site: https://meridian.allenpress.com/aaidd |
Erfasst von | ERIC (Education Resources Information Center), Washington, DC |
Update | 2024/1/01 |