Publications by authors named "G Astrea"
Background: Autosomal recessive inherited pathogenetic variants in the histidine triad nucleotide-binding protein 1 () gene are responsible for an axonal Charcot-Marie-Tooth neuropathy associated with neuromyotonia, a phenomenon resulting from peripheral nerve hyperexcitability that causes a spontaneous muscle activity such as persistent muscle contraction, impaired relaxation and myokymias.
Methods: Herein, we describe two brothers in whom biallelic variants were identified following a multidisciplinary approach.
Results: The younger brother came to our attention for clinical evaluation of moderate intellectual disability, language developmental delay, and some behavioral issues.
Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. This was an observational multicenter study.
View Article and Find Full Text PDFAim: To investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and developmental outcomes.
Method: This was a descriptive case series of children with congenital myotonic dystrophy (CDM) and childhood-onset myotonic dystrophy (ChDM). Parental timing of DM1 diagnosis and the perinatal, motor, and cognitive outcomes of paediatric patients were recorded.
Article Synopsis
- Patients with AP-4 deficiency have developmental delays and seizures that start early in life, along with other issues like trouble with speech and movement.
- The study looked at how these seizures happen and how patients respond to treatment, finding various types of seizures and some unique brain wave patterns.
- Overall, while epilepsy can develop at different ages, many patients had a good outlook, and they didn’t seem to be resistant to medications.