Clinical and Genetic Characteristics of Young Children with Fragile X Syndrome

Clinical and Genetic Characteristics of Young Children with Fragile X Syndrome

Purpose This study analyzed the clinical and genetic characteristics of young children with fragile X syndrome (FXS) and evaluated the significance of FXS genetic (FX) testing for children with global developmental delay (GDD). Methods FX testing was performed in 324 children aged <5 years and th...

Full description

Bibliographic Details
Main Authors:	So-Hee Lee, Ji-Eun Jeong, Yoon-Young Jang, Jin-Kyung Kim
Format:	Article
Language:	English
Published:	Korean Child Neurology Society 2021-07-01
Series:	Annals of Child Neurology
Subjects:	fragile x syndrome genetic testing intellectual disability
Online Access:	http://www.annchildneurol.org/upload/pdf/acn-2021-00353.pdf

Similar Items

Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis
by: Maiara A. Floriani, et al.
Published: (2017-04-01)

Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment
by: Anne Hoffmann, et al.
Published: (2020-04-01)

Communication in fragile X syndrome: Patterns and implications for assessment and intervention
by: Anne Hoffmann, et al.
Published: (2022-12-01)

High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters
by: Chaste Pauline, et al.
Published: (2012-06-01)

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador
by: Juan Pozo-Palacios, et al.
Published: (2021-12-01)

The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing
by: Wen Zhang, et al.
Published: (2022-07-01)

Case Reports of Aortic Aneurism in Fragile X Syndrome
by: Sivan Lewis, et al.
Published: (2022-08-01)

Fragile X syndrome: panoramic radiographic evaluation of dental anomalies, dental mineralization stage, and mandibular angle
by: Aida Sabbagh-Haddad, et al.

Do Fragile X Syndrome and Other Intellectual Disorders Converge at Aberrant Pre-mRNA Splicing?
by: Sneha Shah, et al.
Published: (2021-09-01)

Fragile X syndrome: a review of clinical and molecular diagnoses
by: Claudia Ciaccio, et al.
Published: (2017-04-01)

Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network
by: Claudio D’Incal, et al.
Published: (2022-04-01)

Platelets as a surrogate disease model of neurodevelopmental disorders: Insights from Fragile X Syndrome
by: David Pellerin, et al.
Published: (2018-02-01)

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome
by: Dejan B. Budimirovic, et al.
Published: (2017-06-01)

“Corp-Osa-Mente”, a Combined Psychosocial–Neuropsychological Intervention for Adolescents and Young Adults with Fragile X Syndrome: An Explorative Study
by: Federica Alice Maria Montanaro, et al.
Published: (2023-02-01)

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome
by: Barbara eBardoni, et al.
Published: (2014-03-01)

Phenotypic Trade-Offs: Deciphering the Impact of Neurodiversity on Drug Development in Fragile X Syndrome
by: Truong An Bui, et al.
Published: (2021-10-01)

Defining the 3′Epigenetic Boundary of the <i>FMR1</i> Promoter and Its Loss in Individuals with Fragile X Syndrome
by: David E. Godler, et al.
Published: (2023-06-01)

Síndrome frágil X Fragile X syndrome
by: Miguel Lugones Botell, et al.
Published: (2006-09-01)

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach
by: Inga Sophia Knoth, et al.
Published: (2018-01-01)

Exploring Parents’ Concerns Regarding Long-Term Support and Living Arrangements for Their Children with Fragile X Syndrome
by: Kaylynn Shuleski, et al.
Published: (2022-09-01)

Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome
by: YeEun Tak, et al.
Published: (2024-03-01)

Cognitive training for children and adolescents with fragile X syndrome: a randomized controlled trial of Cogmed
by: David Hessl, et al.
Published: (2019-04-01)

The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein–Taybi syndromes
by: Katherine Ellis, et al.
Published: (2021-11-01)

Bullying Victimization in Young Females with Fragile-X-Syndrome
by: Lorena Joga-Elvira, et al.
Published: (2020-09-01)

Impact of Fragile X Syndrome on Their Families
by: Concha Iriarte-Redín, et al.
Published: (2020-12-01)

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
by: Emma K. Baker, et al.
Published: (2019-12-01)

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders
by: Karen eUsdin, et al.
Published: (2014-07-01)

Cognitive Training Deep Dive: The Impact of Child, Training Behavior and Environmental Factors within a Controlled Trial of Cogmed for Fragile X Syndrome
by: Haleigh Scott, et al.
Published: (2020-09-01)

Síndrome frágil X Fragile X Syndrome
Published: (2007-03-01)

Case Series: Vestibular Migraines in Fragile X Premutation Carriers
by: YeEun Tak, et al.
Published: (2024-01-01)

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome
by: Claudine M Kraan, et al.
Published: (2020-10-01)

Modeling Fragile X Syndrome in Drosophila
by: Małgorzata Drozd, et al.
Published: (2018-04-01)

Metformin treatment in young children with fragile X syndrome
by: Hazel Maridith B. Biag, et al.
Published: (2019-11-01)

Mechanisms Driving the Emergence of Neuronal Hyperexcitability in Fragile X Syndrome
by: Pernille Bülow, et al.
Published: (2022-06-01)

Fragile X-Associated Disorders in Serbia: Baseline Quantitative and Qualitative Survey of Knowledge, Attitudes and Practices Among Medical Professionals
by: Dejan B. Budimirovic, et al.
Published: (2018-09-01)

Fragile X Syndrome and Targeted Treatments
by: Nattaporn Tassanakijpanich, et al.
Published: (2020-04-01)

Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics Síndrome do X frágil: características clínicas, eletrencefalográficas e de imagem
by: MARILISA M. GUERREIRO, et al.
Published: (1998-03-01)

Fragile X syndrome: clinical and cytogenetic studies
by: TÊMIS MARIA FÉLIX, et al.
Published: (1998-03-01)

Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome
by: Aadil Yousuf, et al.
Published: (2022-08-01)

Fragile X syndrome and associated disorders: Clinical aspects and pathology
by: Maria Jimena Salcedo-Arellano, et al.
Published: (2020-03-01)