Search results for "EEG abnormalities"

showing 2 items of 2 documents

Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities

2019

Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children wit…

MaleSleep Wake Disorderscongenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtyAdolescentArticle SubjectPolysomnographyNeurosciences. Biological psychiatry. NeuropsychiatryFragile X Mental Retardation Protein03 medical and health sciences0302 clinical medicinechildrenIntellectual disabilitymedicineHumansIctalCircadian rhythmChildEEG abnormalitiesPathologicalPSG030304 developmental biology0303 health sciencesNeuronal PlasticityFragile X syndrome; intellectual disability; polysomnographicbusiness.industryCase-control studyNeuropsychologyElectroencephalographyGeneral Medicinemedicine.diseasepolysomnographicFragile X syndromeNeuropsychology and Physiological PsychologyNeurologyintellectual disabilityCase-Control StudiesFragile X SyndromeCohortFemaleNeurology (clinical)FXSSleepbusiness030217 neurology & neurosurgeryRC321-571Research ArticleBehavioural Neurology
researchProduct

The angelman syndrome: A brief review

2017

Angelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients' features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe.

Medicine (all)Angelman syndromeUBE3AAngelman syndrome; Behavioural abnormalities; EEG abnormalities; Mental retardation; UBE3A; Medicine (all)Mental retardationEEG abnormalitieBehavioural abnormalitie
researchProduct