Girl, aged 5, raises $25,000 selling lemonade for disabled brother

A five-year-old girl from Toronto, has raised $25, 000 in the hope that a cure can be found for her brother's disability
Source: Telegraph Health - Category: Consumer Health News Tags: Foundation for Angelman Syndrome Theraputics Foundation for Angelman Syndrome Therapeutics colin farrell fundraising Source Type: news

Related Links:

Publication date: Available online 21 February 2020Source: NeuroscienceAuthor(s): Diana C. Rotaru, Edwin J. Mientjes, Ype ElgersmaAbstractThe UBE3A gene is part of the chromosome 15q11-q13 region that is frequently deleted or duplicated, leading to several neurodevelopmental disorders. Angelman syndrome (AS) is caused by the absence of functional maternally derived UBE3A protein, while the paternal UBE3A gene is present but silenced specifically in neurons. Patients with AS present with severe neurodevelopmental delay, with pronounced motor deficits, absence of speech, intellectual disability, epilepsy, and sleep problems....
Source: Neuroscience - Category: Neuroscience Source Type: research
We present a girl with severe intellectual disability, developmental delay, distinctive facial features, and other neuropsychiatric features. Trio whole exome sequencing revealed a novel homozygous frameshift variant in AP4E1 [NM_007347.5:c.2412dupT:p.(Gly805Trpfs*8)] and uniparental isodisomy of chromosome 15 [iUPD(15)]. Single nucleotide polymorphism mapping analysis of exome data showed that the homozygous AP4E1 variant was derived from her heterozygous carrier father and unmasked by paternal iUPD(15).
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research
ConclusionThis review found provisional evidence but weak evidence for the effectiveness of behavioral interventions, and mixed outcomes for the effectiveness of Melatonin for the treatment of sleep problems in AS. All 10 studies only achieved a suggestive level of certainty, therefore, further high-quality research is needed to evaluate interventions for the treatment of sleep problems in this population.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
Publication date: February 2020Source: Research in Developmental Disabilities, Volume 97Author(s): Georgie Agar, Chris Oliver, Jayne Trickett, Lucy Licence, Caroline RichardsAbstractBackgroundSleep problems are common in Smith-Magenis (SMS) and Angelman syndromes (AS). Effectiveness of interventions depends on appropriate assessment, complicated by compromised self-report and health and behaviour difficulties. Studying settling and waking in these syndromes could inform assessment.AimsTo describe settling and waking behaviours in children at high-risk of sleep and health problems, using direct observation.Methods and proce...
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
CONCLUSION: This is the first observation of a heterozygous mutation in the MBD5 gene associated with a neuronal migration disorder. PMID: 31820818 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research
This report aims to present the ophthalmological features, and identify the diagnosis and outcomes of strabismus surgery in AS patients. Diagnosis: Three children with exotropia were diagnosed with AS based on their typical clinical features. Interventions: All patients underwent multiplex ligation-dependent probe amplification (MLPA) analysis and accepted lateral rectus recession surgery with the assistance of intravenous combined inhalation anesthesia. Outcomes: The maternal heritage deletion of chromosome 15q11.2-q13 was verified in all patients by MLPA. All patients with strabismus could not cooperate during t...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, lack of speech, ataxia, EEG abnormalities, and epilepsy. Seizures in individuals with AS are common, debilitating, and often drug resistant. Thus, there is an unmet need for better treatment options. Cannabidiol (CBD), a major phytocannabinoid constituent of cannabis, has shown antiseizure activity and behavioral benefits in preclinical and clinical studies for some disorders associated with epilepsy, suggesting that the same could be true for AS. Here, we show that acute CBD (100 mg/kg) treatment attenuated hyperthermia- and ...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
ConclusionsBehaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
ConclusionClinical work ‐up of an individual with developmental delay, hyperactivity, anxiety, and an uncharacteristically happy demeanor should prompt methylation studies to rule out mAS. We expand the phenotypic spectrum of AS to include features that overlap with Prader‐Willi such as hyperphagia.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned. Mol Med Rep. 2019 May 15;: Authors: Dong Y, Liu S, Li J, Li J, Chen Q, Luo J, Li C, Li H, Qi H, Li R Abstract Prader‑Willi syndrome (PWS), a complicated neurodevelopmental disorder arising from errors in genomic imprinting, is characterized by evident hypotonia along with feeding difficulties and the absence of crying in early infancy. Hyperphagia and obesity are not uncommon in patients with PWS, usually accompanied by intellectual disability, cognitive impairment, shor...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
More News: Angelman Syndrome | Disability | Fundraising | Girls | Health