A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953–2003

Thomson, Allyson; Glasson, Emma; Bittles, Alan H.

doi:10.1080/09638280500190631

Cited by 40 publications

(61 citation statements)

References 31 publications

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“…Sustained seizure-freedom following epilepsy in childhood has been found in four of five patients with a 15q11-q13 deletion followed up longitudinally until the age of 30 years or more (Uemura et al, 2005). Other studies, however, have shown that epilepsy can persist or reappear in adulthood (Moncla et al, 1999;Thomson et al, 2006).…”

Section: Natural History Of the Seizure Disordermentioning

confidence: 97%

The Lessons from Angelman Syndrome for Research and Management

Pelc¹,

Chéron²,

Dan³

2011

Epilepsy in Children - Clinical and Social Aspects

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Section: Natural History Of the Seizure Disordermentioning

confidence: 97%

The Lessons from Angelman Syndrome for Research and Management

Pelc¹,

Chéron²,

Dan³

2011

Epilepsy in Children - Clinical and Social Aspects

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“…Despite the range of symptoms, individuals with AS are often recognized by a generally happy disposition [18,19]. AS affects between 1 in 15,000 and 1 in 40,000 individuals [20,21]. Some studies have provided support to indicate that approximately 60% of patients may also be diagnosed with autism [22].…”

Section: Angelman Syndromementioning

confidence: 99%

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

et al. 2015

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Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of autism is such that a variety of different rare mutations have been discovered, including rare monogenic conditions that involve autistic symptoms. Also, de novo copy number variants and single nucleotide variants contribute to disease susceptibility. Finally, autosomal recessive loci are contributing to our understanding of inherited factors. We will review the progress that the field has made in the discovery of these rare genetic variants in autism. We argue that mutation discovery of this sort offers an important opportunity to identify neurodevelopmental mechanisms in disease. The hope is that these mechanisms will show some degree of convergence that may be amenable to treatment intervention.

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“…Die eigenen Erfahrungen bei Patienten mit AS beruhen vorrangig auf Narkosen für oralchirurgische Eingriffe bei 6 von 7 S-Patienten, die sich im Rahmen einer Spezialsprechstunde für Menschen mit Behinderungen vorstellten. Oralchirurgische Eingriffe sind die häufigsten operativen Eingriffe bei ASPatien ten [45].…”

Section: Narkosen Bei Patienten Mit Angelman-syndrom In Berlinunclassified

Anästhesie beim Angelman-Syndrom

2011

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Angelman syndrome (AS) is a rare neurodevelopmental disorder with an incidence of 1:10,000-1:40,000 caused by deficient genetic imprinting in the chromosomal segment 15q11-q13. Experimental data suggest that the gamma-aminobutyric acid A (GABA(A)) receptor as well as the N-methyl-D-aspartate (NMDA) or α-amino-3-hydroxy-5-methyl-4-isoxazole proprionic acid (AMPA) receptors may be affected by this condition. The first description of the syndrome goes back to 1965 when the British pediatrician Harry Angelman (1915-1996) recognized similar clinical features in three children. Angelman's description of puppet children was changed to happy puppet syndrome 2 years later before this euphemistic denotation was replaced by the concept Angelman syndrome over the years. Angelman syndrome is characterized by ataxia, jerky movements especially hand flapping, a seizure disorder with a characteristic electroencephalogram (EEG), severe learning difficulties, a happy disposition, lack of verbal communication and dysmorphic facial features. Most hospitalizations are caused by epilepsy and the most common indications for surgical procedures are in dental medicine. The first anesthesiology case report to be published dates back to 2001. A total of 13 cases have now been published and in 11 cases the age was registered (mean age 11.6 years, standard deviation 11.7 and 2 outliers aged 27 and 40 years). In this paper, the published case reports are contrasted with 15 cases of anesthesia in 6 patients with AS who underwent surgery during 14 years of routine operations at a Berlin anesthesiology clinic (mean age 15.9 years, standard deviation 4.2 with no outliers). Besides neurosurgical and orthopedic operations most were dental interventions. Summarized, these cases of anesthesia and the results of the published case reports allow the formulation of guidelines for administration of anesthesia in AS cases but do not permit conclusions on which method of anesthesia is the safest for AS patients. For the preoperative consultation and anesthetization, communication with the patients requires the aid of parents or other relatives. Water and reflecting surfaces may be used to gain contact with AS patients. Patients with AS feel pain like any other person although they are frequently smiling and laughing and this has to be considered especially in major surgery (e.g. scoliosis surgery). The most important life-threatening complication is bradycardia due to vagal hypertonia which can lead to asystole with delayed response to atropine. None of the Berlin patients had severe bradycardia but the complication has to be taken into consideration. The use of drugs to ensure complete reversal of neuromuscular relaxation should be avoided because anticholinergic agents could cause bradycardia. The use of sugammadex in cases of AS has not been tested. To avoid elevation of the vagal tone, the indications for laparascopy have to be considered very carefully. There is no evidence that any drug or hypnotic may be more appropriate or advantageous. Balanced an...

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A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953–2003

Abstract: The estimated incidence was low compared to other reports, as was the proportion of IQ < 40. AS cases required substantial levels of medical care, especially those who were epileptic. An increase in the future numbers of AS patients needing sheltered accommodation is predicted.

Cited by 40 publications

References 31 publications

The Lessons from Angelman Syndrome for Research and Management

The Lessons from Angelman Syndrome for Research and Management

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

Anästhesie beim Angelman-Syndrom

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