The following report from the MHC-database is based on the latest version of the Mun-H-Center Observation Chart that has been in use since 2008. Please note, that this report exclude children younger than 3 years.
Reports based on the original forms (1996-2008) are presented at the bottom of this page - below the description of the diagnosis
Illustrations: Anders Nyberg
Etiology
Genetic origin, often spontaneous mutation. Most of these children have some deletion of chromosomal material in the chromosome 15 inherited from the mother. The diagnosis is often decided according to well established international clinical criteria.
General symptoms
Delayed psychomotor development. Muscle laxity and balance problems. Severe mental retardation. Epilepsy. Abnormal language development, where understanding is often superior to the ability to express things in speech or using alternative means of communication. Other characteristics are hyperactivity and stereotypic behavior.
Orofacial/odontological symptoms
symptomsThere is a particular appearance characteristic for the diagnosis. Widely-spaced teeth are common, as are malocclusions in the form of a postnormal or prenormal bite and an open, frontal bite. Daytime tooth grinding is common. Many like to suck and bite their hands and objects. Oral motor skills are poorly developed, and there is muscular laxity (hypotonia). Sucking, eating and drinking difficulties and drooling are all frequent problems. Most individuals with Angelman syndrome never acquire speech.
Orofacial/odontological treatment
- It is important that individuals with this diagnosis receive dental preventive treatment, with extra prophylactic care and information on oral hygiene from an early age.
- Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
- Tooth grinding should be followed up, and be managed with a splint when necessary.
- Oral motor skill training and extra stimulation are justified.
- Communication skills training is frequently essential.
Sources
The rare disease database of the Swedish National Board of Health and Welfare.
The MHC database - The Mun-H-Center database of orofacial manifestations in rare diseases.
The Newsletter of the Ågrenska Center.
