Communication development in Angelman's syndrome.

Angelman's syndrome, abnormality of 15q11-13, and imprinting.

Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities.

Positron emission tomography (PET) is a technique that enables imaging of the distribution of radiolabeled tracers designed to track biochemical and molecular processes in the body after intravenous injection or inhalation. New strategies for the use of radiolabeled tracers hold potential for imaging gene expression in the brain during development and following interventions. In addition, PET m...

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic overlap with Rett's and Angelman's syndromes has been noted. Following the first reports of 5q14.3q15 microdeletions encompassing the MEF2C gene, furthe...

Are Communication Skills as effective factors on Sibling Relationships of Adolescents with Down Syndrome?

Objectives: Sibling relationships are often among the longest lasting relationships between people, and more than two-thirds of adolescents with siblings introduce their siblings as the most important people in their life. Therefore, the aim of this study was to evaluate the effectiveness of communication skills on sibling relationships among the adolescents with Down syndrome. Methods:  <a c...

The 'happy puppet' syndrome of Angelman: review of the clinical features.

Thirty six children with typical features of Angelman's syndrome, including global developmental delay, ataxia, episodes of paroxysmal laughter, seizures, and microcephaly were studied. The series included three sibships of three affected sisters, two affected brothers, and two affected sisters, respectively. The facial appearance is characterised by a prominent jaw, a wide mouth, and a pointed...