Autism in Angelman syndrome: a population-based study

Steffenburg, Suzanne; Gillberg, Christopher; Steffenburg, Ulf; Kyllerman, Mårten

doi:10.1016/0887-8994(96)00011-2

Cited by 212 publications

(127 citation statements)

References 27 publications

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“…However, none of the autistic children with inverse duplication of 15q11-q13 had clinical characteristics of Angelman s or Prader-Willi syndromes. An association has been described with 15q11-q13 in a large group of autistic individuals 92 and genetic polymorphism involving chromosome 15, with a marker in a GABAa receptor subunit. 93 Nevertheless, among four collaborative studies, only the French study confirmed this finding.…”

Section: Neurochemistrymentioning

confidence: 99%

Autismo e doenças invasivas de desenvolvimento

Gadia¹,

Tuchman²,

Rotta³

2004

J. Pediatr. (Rio J.)

102

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Objective: To review the current knowledge on neurobiological aspects of autism and pervasive developmental disorders, as well as to provide pediatricians with up to date information on diagnosis and treatment of autism. Sources of data: Review of MEDLINE and Internet.Summary of the findings: Autism is the 3rd developmental disorder, with an incidence of 40 to 130/100,000 individuals. Diagnosis is based on clinical findings, following DSM IV criteria. Neuroimaging, investigation of fetal neurological status, and genetic investigation contribute towards a better understanding of the neurobiology of autism. Conclusion:Pediatricians are the first health professional to come in contact with patients with autism. Thus, they should be able to diagnose and to coordinate the multidisciplinary treatment of these patients.J Pediatr (Rio J). 2004;80(2 Suppl):S83-S94: Autism, child behavior, child development.

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Section: Neurochemistrymentioning

confidence: 99%

Autismo e doenças invasivas de desenvolvimento

Gadia¹,

Tuchman²,

Rotta³

2004

J. Pediatr. (Rio J.)

102

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“…Chromosome rearrangements may be inherited or de novo. Prenatal testing is A ngelman syndrome (AS) is seen in one in 12,000 -20,000 of the population [1][2][3] and is characterized by severe developmental delay and speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with a happy demeanor that includes frequent laughing, smiling, and excitability. 4 -7 In addition, microcephaly and seizures are common.…”

mentioning

confidence: 99%

Clinical and genetic aspects of Angelman syndrome

Williams

Driscoll

Dagli

2010

Genetics in Medicine

268

235

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“…AS is a neurogenetic disorder with developmental delay, virtually absent speech, motor impairment and a remarkable behavioural phenotype, associated with genetic or epigenetic abnormalities of chromosome 15q11-13 (Williams et al, 1995) (Table 1). It has an estimated prevalence of 0.008% (Steffenburg et al, 1996) but is thought to be largely under-diagnosed (Therasse et al, 1997). AS and spastic diplegia associated with periventricular leucomalacia (SDPL) share some features such as limb hypertonia, which is more marked distally, predominates in the lower limbs and increases with active mobilisation, hyperactive jerks, extensor plantar responses and varying degrees of trunk hypotonia.…”

Section: Introductionmentioning

confidence: 99%

Distinct multi-joint control strategies in spastic diplegia associated with prematurity or Angelman syndrome

Dan

Bouillot

Bengoetxea

et al. 2001

Clinical Neurophysiology

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Spastic diplegia is commonly due to periventricular leucomalacia associated with premature birth. It is also a feature of Angelman syndrome (AS), a neurogenetic disorder with developmental delay, absent speech and mirthful behaviour. We studied the kinematics and kinetics of the squatting movement and associated electromyographic (EMG) activities in 20 children with spastic diplegia associated with periventricular leucomalacia (SDPL) or AS and 18 unimpaired children. While movement of normal subjects consisted of vertical translation of most body segments, the movement of SDPL children was operated around the ®xed knee with backward shift of the hip, and AS children performed a forward¯exion of the trunk over the thigh. Trunk stability was correlated with movement velocity in both pathological groups. In normal subjects, anticipatory EMG pattern consisted of silencing of hamstring muscle tonic activity prior to movement onset. This deactivation was not present in spastic diplegia. In SDPL, anticipatory overactivation of ankle joint actuators was recorded and tonic cocontraction persisted throughout the movement. In AS, rhythmic EMG bursting was seen during the movement. Shoulder, hip and knee trajectories in the sagittal plane showed marked within-group stereotypies in orientation, shape and length. The patterns in both pathological groups were therefore distinctive. We speculate that they re¯ect corticospinal impairment in SDPL and combined corticospinal and cerebellar dysfunction in AS. q

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Autism in Angelman syndrome: a population-based study

Cited by 212 publications

References 27 publications

Autismo e doenças invasivas de desenvolvimento

Autismo e doenças invasivas de desenvolvimento

Clinical and genetic aspects of Angelman syndrome

Distinct multi-joint control strategies in spastic diplegia associated with prematurity or Angelman syndrome

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