Angelman Syndrome

Williams, Charles A.; Mueller‐Mathews, Jennifer M.

doi:10.1002/9781119432692.ch5

Cited by 3 publications

(1 citation statement)

References 47 publications

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“…The suggested first line testing is either FISH (plus a standard karyotype) or DNA methylation analysis. Methylation analysis will diagnose 80% of patients with classic AS, but when this is the first investigation, further evaluation with FISH and/or DNA polymorphism analysis is recommended to identify the molecular class of AS (deletion; UPD; IC defect), for genetic counseling purposes (Williams 2005). UBE3A gene mutation analysis should be pursued when there is a strong clinical suspicion of AS and a negative methylation test.…”

Section: Ring Chromosome 14 Syndromementioning

confidence: 99%

Chromosomal disorders associated with epilepsy

Battaglia,

Guerrini

2005

Epileptic Disorders

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Epilepsy is among the most common findings associated with chromosome aberrations, particularly those involving autosomal chromosome imbalances. Most chromosome aberrations can be associated with different seizure types, but there are a few aberrations featuring specific seizure and electroencephalographic (EEG) patterns. The analysis of electro‐clinical patterns associated with chromosomal aberrations is a major tool in the identification of epilepsy susceptibility genes. Advances in molecular cytogenetic techniques will certainly increase the diagnostic yield, and an increasing number of individuals previously diagnosed as having “cryptogenic” epilepsy will turn out to have an underlying chromosomal aberration. We review the types of seizures, EEG findings, and their natural history in the chromosomal disorders that are consistently associated with epilepsy.

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Section: Ring Chromosome 14 Syndromementioning

confidence: 99%

Chromosomal disorders associated with epilepsy

Battaglia,

Guerrini

2005

Epileptic Disorders

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Telehealth Training in Naturalistic Communication Intervention for Mothers of Children with Angelman Syndrome

Rispoli

Shannon

Voorhis

et al. 2022

Adv Neurodev Disord

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Objectives Young children with Angelman syndrome have significant delays in expressive communication. Parents of children with Angelman syndrome require training to support their child’s communication development. Unfortunately, parent training focused on the needs of families of children with rare genetic syndromes is unavailable to many families. The purpose of this study was to evaluate a telehealth parent training program on naturalistic communication intervention for young children with Angelman syndrome. Methods Using two single-case multiple baseline designs across a total of six parent–child dyads, we evaluated the effects of a telehealth parent training program on parent implementation fidelity of a naturalistic communication intervention, child communication, and child engagement. Results With the telehealth parent training program, parent implementation fidelity of naturalistic communication intervention improved, maintained and generalized to untrained home routines. Small effects on child communication and engagement were observed during the program. Conclusions Parents of children with Angelman syndrome were successfully taught via telehealth to implement a naturalistic communication intervention with their child at home. Additional research is needed to promote positive child communication outcomes through parent-mediated intervention.

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Widespread Gene Editing in the Brain via In Utero Delivery of mRNA Using Acid-Degradable Lipid Nanoparticles

Gao,

Han,

Cranick

et al. 2024

ACS Nano

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In utero gene editing with mRNA-based therapeutics has the potential to revolutionize the treatment of neurodevelopmental disorders. However, a critical bottleneck in clinical application has been the lack of mRNA delivery vehicles that can efficiently transfect cells in the brain. In this report, we demonstrate that in utero intracerebroventricular (ICV) injection of densely PEGylated lipid nanoparticles (ADP-LNPs) containing an aciddegradable PEG−lipid can safely and effectively deliver mRNA for gene editing enzymes to the fetal mouse brain, resulting in successful transfection and editing of brain cells. ADP-LNPs containing Cre mRNA transfected 30% of the fetal brain cells in Ai9 mice and had no detectable adverse effects on fetal development and postnatal growth. In addition, ADP-LNPs efficiently transfected neural stem and progenitor cells in Ai9 mice with Cre mRNA, which subsequently proliferated and caused over 40% of the cortical neurons and 60% of the hippocampal neurons to be edited in treated mice 10 weeks after birth. Furthermore, using Angelman syndrome, a paradigmatic neurodevelopmental disorder, as a disease model, we demonstrate that ADP-LNPs carrying Cas9 mRNA and gRNA induced indels in 21% of brain cells within 7 days postpartum, underscoring the precision and potential of this approach. These findings demonstrate that LNP/mRNA complexes have the potential to be a transformative tool for in utero treatment of neurodevelopmental disorders and set the stage for a frontier in treating neurodevelopmental disorders that focuses on curing genetic diseases before birth.

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Angelman Syndrome

Cited by 3 publications

References 47 publications

Chromosomal disorders associated with epilepsy

Chromosomal disorders associated with epilepsy

Telehealth Training in Naturalistic Communication Intervention for Mothers of Children with Angelman Syndrome

Widespread Gene Editing in the Brain via In Utero Delivery of mRNA Using Acid-Degradable Lipid Nanoparticles

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