Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Better communication research project : language and literacy attainment of pupils during early years and through KS2 : does teacher assessment at five provide a valid measure of children's current and future educational attainments? [PDF]
It is well-established that language skills are amongst the best predictors of educational success. Consistent with this, findings from a population-based longitudinal study of parents and children in the UK indicate that language development at the age
Bailey, Alison M +4 more
core
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Children’s Well-Being in Primary School: Pupil and School Effects [Wider Benefits of Learning Research Report No. 25] [PDF]
This study investigates pupil and school effects on children’s well-being between the ages of 8 and 10. We found that most children experience positive well-being in primary school.
Feinstein, Leon, Gutman, Leslie
core +1 more source
Dementia Incidence in Individuals With Parkinson's Disease in the Framingham Heart Study
ABSTRACT Limited information exists on incident dementia in individuals with Parkinson's disease (PD) in US community‐based samples. We examined cognitive statuses and PD diagnoses of 183 individuals in the Framingham Heart Study (FHS) to establish incident dementia, mortality rates, associations with sex, age at PD onset, and education level.
Joshi Dookhy +11 more
wiley +1 more source
Does organic food intervention in the Danish schools lead to change dietary patterns? - results of a web based questionnaire survey among Danish school food coordinators [PDF]
Now, more than ever, there are serious health concerns for the growing prevalence of obese and overweight children. Schools are well suited setting for the learning of children and young people, and this influence has the potential to play an important ...
He, Chen
core
ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan +5 more
wiley +1 more source
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
This study aimed to investigate the relationship between peer bullying and school-based loneliness in primary school children. Designed as a descriptive and cross-sectional study, it was conducted with the participation of 453 third- and fourth-grade ...
Rukiye Arslan, Derya Yanık
doaj
An approach to hygiene education among rural Indian school going children [PDF]
Objectives: To find out the prevalence of intestinal parasites and its epidemiological correlates among rural Indian school going (6-14 years) children and to study the effect of focused, need based child to child hygiene education on personal hygiene of
Boratne, AV +4 more
core

