Williams, C.A. et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am. J. Med. Genet. A. 140, 413-418

Leiden University, Leyden, South Holland, Netherlands
American Journal of Medical Genetics Part A (Impact Factor: 2.16). 03/2006; 140(5):413-8. DOI: 10.1002/ajmg.a.31074
Source: PubMed


In 1995, a consensus statement was published for the purpose of summarizing the salient clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and accurate diagnosis. Considering the scientific advances made in the last 10 years, it is necessary now to review the validity of the original consensus criteria. As in the original consensus project, the methodology used for this review was to convene a group of scientists and clinicians, with experience in AS, to develop a concise consensus statement, supported by scientific publications where appropriate. It is hoped that this revised consensus document will facilitate further clinical study of individuals with proven AS, and assist in the evaluation of those who appear to have clinical features of AS but have normal laboratory diagnostic testing.

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    • "Tongue thrust is typically associated with psychopathology and is considered to be an orofacial muscular imbalance whereby the tongue ''protrudes through the anterior incisors during swallowing, speech production, and while the tongue is at rest'' (Council on children with disabilities, 2006). Tongue thrust has been documented in patients with Dystonia (Schneider et al., 2006), Down's syndrome (Limbrock, Fischer-Brandies, & Avalle, 1991), Rett syndrome (Einspieler, Kerr, & Prechtl, 2005), Tourette's syndrome (Strassnig, Hugo, & Muëller, 2004), Angelman syndrome (Williams et al., 2006) and in children with non-organic failure to thrive (Mathisen, Skuse, Wolke, & Reilly, 1989). Tongue thrust has also been reported in 67–95% of typically developing children aged 5–8 years. "
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    ABSTRACT: A prevailing theory regarding the evolution of language implicates a gestural stage prior to the emergence of speech. In support of a transition of human language from a gestural to a vocal system, articulation of the hands and the tongue are underpinned by overlapping left hemisphere dominant neural regions. Behavioral studies demonstrate that human adults perform sympathetic mouth actions in imitative synchrony with manual actions. Additionally, right-handedness for precision manual actions in children has been correlated with the typical development of language, while a lack of hand bias has been associated with psychopathology. It therefore stands to reason that sympathetic mouth actions during fine precision motor action of the hands may be lateralized. We employed a fine-grained behavioral coding paradigm to provide the first investigation of tongue protrusions in typically developing 4-year old children. Tongue protrusions were investigated across a range of cognitive tasks that required varying degrees of manual action: precision motor action, gross motor action and no motor actions. The rate of tongue protrusions was influenced by the motor requirements of the task and tongue protrusions were significantly right-biased for only precision manual motor action (p<.001). From an evolutionary perspective, tongue protrusions can drive new investigations regarding how an early human communication system transitioned from hand to mouth. From a developmental perspective, the present study may serve to reveal patterns of tongue protrusions during the motor development of typically developing children. Copyright © 2015 Elsevier B.V. All rights reserved.
    Cognition 04/2015; in press. DOI:10.1016/j.cognition.2015.04.012 · 3.63 Impact Factor
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    • "Please cite this article as: Bukvic, N., Elling, J.W., Genetics in the art and art in genetics, Gene (2014), Angelman syndrome features are caused by deficient expression or function of the maternally inherited UBE3A allele (Chamberlain and Lalande, 2010; Dagli and Williams, 2014; Van Buggenhout and Fryns, 2009; Williams et al., 2006, 2010). Different genetic mechanisms may lead to AS, such as: deletion of the 15q11.2–q13 "
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    ABSTRACT: "Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis.
    Gene 07/2014; 555(1). DOI:10.1016/j.gene.2014.07.073 · 2.14 Impact Factor
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    • "Am J Med Genet. 2006;140(5):413–418.6 "
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    ABSTRACT: "Angelman syndrome" (AS) is a neurodevelopmental disorder whose main features are intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The behavioral features of AS include a happy demeanor, easily provoked laughter, short attention span, hypermotoric behavior, mouthing of objects, sleep disturbance, and an affinity for water. Microcephaly and subtle dysmorphic features, as well as ataxia and other movement disturbances, are additional features seen in most affected individuals. AS is due to deficient expression of the ubiquitin protein ligase E3A (UBE3A) gene, which displays paternal imprinting. There are four molecular classes of AS, and some genotype-phenotype correlations have emerged. Much remains to be understood regarding how insufficiency of E6-AP, the protein product of UBE3A, results in the observed neurodevelopmental deficits. Studies of mouse models of AS have implicated UBE3A in experience-dependent synaptic remodeling.
    The Application of Clinical Genetics 05/2014; 7:93-104. DOI:10.2147/TACG.S57386
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