Publications by authors named "Emily Innes"
Background: Variants in dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) cause a neurodevelopmental disorder, classically with prominent epilepsy. Recent reports suggest a complex movement disorder and an overlapping phenotype has been postulated due to their combined role in dolichol synthesis.
Cases: We describe three patients with heterozygous variants in DHDDS and five with variants affecting NUS1.
Article Synopsis
- The study aimed to investigate seizure recurrence, developmental disabilities, and risk factors in families affected by self-limited familial neonatal and/or infantile epilepsy (SeLFE).
- Researchers analyzed data from 15 families in Sydney, finding a high genetic diagnosis rate (93%) among participants, with 73 individuals affected by seizures, including both children and adults.
- The results revealed a 20% risk of recurrent seizures and identified predictors such as a high number of seizures and prolonged treatment; developmental delays were noted in some children, indicating the importance of ongoing developmental monitoring.
Background: Epileptic (previously infantile) spasms is the most common epileptic encephalopathy occurring during infancy and is frequently associated with abnormal neurodevelopmental outcomes. Epileptic spasms have a diverse range of known (genetic, structural) and unknown aetiologies. High dose corticosteroid treatment for 4 weeks often induces remission of spasms, although the mechanism of action of corticosteroid is unclear.
View Article and Find Full Text PDFThis is a unique case of SPG11 mutation presenting as childhood onset dystonic tremor without weakness or spastic paraplegia. Hereditary spastic paraplegia is the most common phenotype of SPG11 mutation though there are reports of an extended phenotype of SPG11 including dopa-responsive dystonia and tremor.
View Article and Find Full Text PDFAcute encephalopathy with biphasic seizures and restricted diffusion.
J Paediatr Child Health
September 2022
Article Synopsis
- ADCY5-related dyskinesia is an early-onset movement disorder without an established treatment, but there's anecdotal evidence suggesting caffeine may help improve symptoms.
- A worldwide study involving 30 patients indicated that caffeine was well tolerated, with 87% reporting symptom improvement, including reduced movement disorder frequency and enhanced quality of life.
- The study concludes that caffeine could be a viable first-line treatment option for patients with ADCY5-related dyskinesia.
Background: The prevalence of potentially stigmatizing lipoatrophy in children receiving antiretroviral therapy in Southern Africa is high, affecting around a third of children. Early diagnosis of lipoatrophy is essential for effective intervention to arrest progression.
Methods: Prepubertal children receiving antiretroviral therapy were recruited from a hospital-based family HIV clinic in Cape Town and followed up prospectively.