Results 71 to 80 of about 1,536,733 (206)
Sleep profiles in individuals with rare neurogenetic syndromes
Developmental Medicine &Child Neurology, EarlyView.Aim To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles. Method The parents of 248 individuals (aged 3–45 years) diagnosed with a range of NGDs, including PTEN hamartoma tumor syndrome (n = 111), SYNGAP1‐related intellectual disability ...
Isabella C. Reyes +7 more
wiley +1 more source
A patogênese genética e molecular da síndrome de Angelman
Jornal Brasileiro de Psiquiatria, 2011 Objetivo: Fornecer uma revisão atualizada em língua portuguesa sobre a síndrome de Angelman, com ênfase nos mecanismos genéticos e moleculares dessa patologia, uma causa de deficiência mental severa que em alguns casos pode apresentar recorrência ...
Angelica Francesca Maris, Alexis Trott
doaj +1 more source
Developmental Medicine &Child Neurology, EarlyView.This systematic overview highlights communication impairment as a defining feature of Rett syndrome, with expressive language consistently affected more severely than receptive language and social ability. Across the literature, most studies rely on caregiver‐reported measures, with relatively few employing direct or objective measurements of speech ...
Lucas N. Raniolo +6 more
wiley +1 more source
EEG Patterns in Angelman Syndrome
, 2003 The sensitivity of the electroencephalogram (EEG) in the diagnosis of Angelman syndrome (AS) was studied in 26 patients (3/1 : F/M ratio) at the University of Sao Paulo Medical School ...
J Gordon Millichap +2 more
core +1 more source
Refining the behavioural phenotype of Angelman syndrome [PDF]
, 2014 Angelman syndrome is associated with distinctive behavioural characteristics including frequent laughing and smiling, heightened motivation for adult attention, sensory seeking, aggression and impaired learning.
Heald, Mary Elizabeth
core +4 more sources
Angelman syndrome and isovaleric acidemia: What is the link?
Molecular Genetics and Metabolism Reports, 2015 We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht +9 more
doaj +1 more source
Strabismus surgery in Angelman syndrome: More than ocular alignment.
PLoS ONE, 2020 PurposeTo report and evaluate strabismus surgery in children with Angelman syndrome, in order to optimize and standardize surgical approach. Other purposes are to understand the possible relation between ocular findings and motor ability, and between ...
Paola Michieletto +6 more
doaj +1 more source
RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms
The FEBS Journal, EarlyView.RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon +4 more
wiley +1 more source
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene. [PDF]
, 2008 Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, absence of speech, seizures, abnormal electroencephalography (EEG), and happy disposition.
Alberto Casarin +13 more
core +1 more source
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Angelman Syndrome (AS) is a rare neurodevelopmental disorder caused by the lack of expression of the UBE3A gene, which can result from abnormalities of the maternally inherited chromosome 15q11‐q13. The purpose of this study is to investigate the most common types of toileting problems in adults with AS and the associated factors of
Emma Walsh +7 more
wiley +1 more source