Results 151 to 160 of about 40,130 (258)

The Impact of Fragile X Syndrome on Caregivers: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well‐being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research ...
Katerina Poprelka, Konstantina Stavrogianni, Panagiota‐Eleni Tsalouchidou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Anastasios Bonakis, Stylianos Gatzonis   +7 more
wiley   +1 more source

Neonatal expression of human FMRP isoform corrects cortical deficits and improves behavior in a mouse model of fragile X syndrome. [PDF]

Mol Ther Nucleic Acids
Norman AO, Scaramella C, Biezonski D, Hector RD, Varallo A, Sahni A, Farooq N, Burstein SR, Benito J, Razak KA, Selfridge J, Cobb S, Ethell IM.   +12 more
europepmc   +1 more source

Parent/Caregiver Perspectives on the Healthcare Decision‐Making Involvement of Young People With Intellectual Disability: A Qualitative Study

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Young people with intellectual disability often have complex healthcare needs. Parent/caregivers can enhance their child's involvement in healthcare decision‐making to improve treatment adherence and health outcomes. Healthcare decision‐making is embedded within health literacy skillsets, and for people with intellectual disability ...
Jessica Keeley, Zhenmei Yeap, Thomas Nevill, Rachel Skoss, Aasta Abbott, Sandra Thompson, Sophie Haywood, Rachel Collins, Katherine Langdon, Jenny Downs   +9 more
wiley   +1 more source

Impaired thalamic burst firing in fragile X syndrome. [PDF]

Cell Rep
O'Shea RT, Priebe NJ, Brager DH.
europepmc   +1 more source

Social cognition in children and adolescents with fragile X syndrome: A comparison with individuals with autism symptoms and typical development

Journal of Neuropsychology, EarlyView.
Abstract Most individuals with fragile X syndrome (FXS) exhibit symptoms of autism spectrum disorder (ASD), suggesting a substantial overlap in social cognitive profiles. This cross‐sectional study aimed to explore social cognitive abilities in children and adolescents with FXS in comparison with an age‐matched heterogeneous ASD group and typically ...
Kamil R. Hiralal, Nienke Bouw, Britt R. Kok, Kyra Lubbers, Bram Dierckx, Kirstin Greaves‐Lord, Manon H. J. Hillegers, Gwendolyn C. Dieleman, Sabine E. Mous   +8 more
wiley   +1 more source

MCVAE-based multi-omic anomaly detection in Fragile X Syndrome.

NAR Mol Med
Khatir W, Lorenzi M, Balelli I, Gwizdek C.   +3 more
europepmc   +1 more source

Adapting a Behavioral Intervention for Caregivers of Children with Down Syndrome or Fragile X Syndrome: A Pilot Study of RUBI-DD. [PDF]

Behav Sci (Basel)
Blackburn AD, McKinney W, Birnschein AM, Esbensen AJ, McKinley S, Rosselot H, Hoffman EK, Erickson C, Shaffer R.   +8 more
europepmc   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis. [PDF]

Front Neurosci
Huang J, Kang B, Xia X, Guo Z, Lv Y, Yang W, Wang C, Wang J, Liao S.   +8 more
europepmc   +1 more source

Inflammatory and Immunological Basis of Periodontal Diseases

Journal of Periodontal Research, EarlyView.
The periodontal lesion emerges as an evolving immunological battlefield, where host–microbiome interactions, dysregulated immune responses, fragile resolution mechanisms, and inflammophilic dysbiosis converge to shift the balance from homeostasis to unrestrained tissue destruction.
Giacomo Baima, Marion Arce, Mario Romandini, Thomas Van Dyke   +3 more
wiley   +1 more source