Results 51 to 60 of about 40,130 (258)
Australian Journal of Social Issues, EarlyView.ABSTRACT This study examines informal supporters' experiences and views of NDIS behaviour support practitioners, including engagement, information needed to support selection, and perceptions of practitioners' knowledge, skill, and practice. It reports data from a cross‐sectional online survey of 123 informal support providers of participants receiving
Alinka Fisher +7 more
wiley +1 more source
Fragile X syndrome: clinical and cytogenetic studies [PDF]
Arquivos de Neuro-Psiquiatria, 1998 Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women.
TÊMIS MARIA FÉLIX +1 more
doaj +1 more source
Defining and Measuring Developmental Regression During Childhood: A Scoping Review
Autism Research, EarlyView.ABSTRACT Developmental regression during childhood is inconsistently defined and measured, resulting in delayed diagnostic discovery and intervention. This study aimed to examine published definitions and measures for developmental regression. A comprehensive search strategy was applied to Medline, Embase, Cochrane, and PsycINFO databases.
Kirsten Furley +4 more
wiley +1 more source
Autism and Developmental Language Impairments, 2020 Background and aims Understanding the unique expressive language profiles of children with phenotypically similar, but distinct neurodevelopmental disorders, such as idiopathic autism spectrum disorder and fragile X syndrome with a co-diagnosis of autism
Elizabeth Hilvert +3 more
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British Educational Research Journal, EarlyView.Abstract All children should have access to quality education through a child‐centred pedagogy. An inclusive, child‐centred pedagogy uses a strength‐based view of children that recognises each child as unique and competent, providing children with multiple opportunities to explore and learn at their own pace.
Katherine Gulliver
wiley +1 more source
International Journal of Clinical Practice, 1994 SUMMARYThe contributions of fragile X syndrome to mental retardation have been underestimated. It is the most common form of familial mental retardation and one of the most common genetic diseases. Its long‐term burden upon families and services is considerable.
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Epilepsy in fragile X syndrome [PDF]
Developmental Medicine & Child Neurology, 2002 Epilepsy is reported to occur in 10 to 20% of individuals with fragile X syndrome (FXS). A frequent seizure/EEG pattern in FXS appears to resemble that of benign focal epilepsy of childhood (BFEC, benign rolandic epilepsy). To evaluate seizure frequency and type in a Chicago FXS cohort, data regarding potential seizure history were reviewed for 136 ...
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Fragile X Premutation: Medications, Therapy and Lifestyle Advice
Pharmacogenomics and Personalized Medicine, 2021 Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj
Coronary Perforation During Excimer Laser Angioplasty in a Patient With Prior Thoracic Radiotherapy
Catheterization and Cardiovascular Interventions, EarlyView.ABSTRACT Background Management of heavily calcified coronary lesions remains challenging despite advances in plaque‐modifying technologies. Excimer laser coronary angioplasty (ELCA) is an effective adjunctive strategy with a low risk of no‐reflow. Case Summary A 75‐year‐old woman with non–ST‐segment elevation acute coronary syndrome and severe left ...
Francesco Maria Sparasci +3 more
wiley +1 more source
The Epigenetics of Fragile X Syndrome [PDF]
Cell Stem Cell, 2007 In this issue of Cell Stem Cell, Eiges et al. (2007) generate a human ES cell line from an embryo identified by preimplantation genetic diagnosis, and shed light on the molecular pathology of fragile X syndrome. The discovery that, upon differentiation, epigenetic modifications likely trigger silencing of the FMR1 gene sets the stage for further ...
openaire +2 more sources