Autism-World

Prenatal history, fetal development, birth weight, and head circumference at birth are usually normal. Young infants with AS may have breast or bottle feeding difficulties (as a result of sucking difficulties) and muscular hypotonia. Angelman syndrome may be first suspected in the toddlers because of delayed gross motor milestones, muscular hypotonia, and speech delay [Williams, Angelman et al 1995 ; Williams, Zori et al 1995]. Some infants have a happy affect with excessive chortling or paroxysms of laughter. Fifty percent of children develop microcephaly by 12 months of age. Strabismus may also occur. Tremulous movements may be noted prior to 12 months of age, often with increased deep tendon reflexes.

Seizures typically occur between one and three years of age and can be associated with generalized, somewhat specific EEG changes: runs of high-amplitude delta activity with intermittent spike and slow wave discharges; runs of rhythmic theta activity over a wide area; and runs of rhythmic sharp theta activity of 5-6/s over the posterior third of the head, forming complexes with small spikes. These are usually facilitated by or seen only with eye closure [Boyd et al 1997 , Rubin et al 1997]. Seizure types can be quite varied and include both major motor (e.g., grand mal) and minor motor types (e.g., petit mal, atonic) [Galvan-Manso et al 2005]. Infantile spasms are rare. Brain MRI may show mild atrophy and mild dysmyelination, but no structural lesions.

The average child with AS walks between two and one-half and six years of age [Lossie et al 2001] and at that time may have a jerky, robot-like, stiff gait, with uplifted, flexed, and pronated forearms, hypermotoric activity, excessive laughter, protruding tongue, drooling, absent speech, and social-seeking behavior [Zori et al 1992]. Ten percent of children are non-ambulatory. Sleep disorders are common, especially frequent night waking and early awakening [Didden et al 2004 , Bruni et al 2004]. Essentially all young children with AS have some component of hyperactivity; males and females appear equally affected. Infants and toddlers may have seemingly ceaseless activity, constantly keeping their hands or toys in their mouth, moving from object to object. Parents report that decreased need for sleep and abnormal sleep/wake cycles are characteristic of AS. Sleep disturbances have been reported in infants with AS and abnormal sleep/wake cycles have been studied in one affected child who benefited from a behavioral treatment program [Summers et al 1992].

Short attention span is present in most. Language impairment is severe. Appropriate use of even one or two words in a consistent manner is rare. Receptive language skills are always more advanced than expressive language skills. Most older children and adults with AS are able to communicate by pointing and using gestures and by using communication boards. Effective fluent use of sign language does not occur [Clayton-Smith 1993].

Puberty is generally normal in adolescents with AS and procreation appears possible for both males and females [Williams, Zori et al 1995]. Until recently no cases of reproduction in either a male or female with AS had been documented. Lossie and Driscoll (1999) reported transmission of AS by an affected mother who has a 15q11.2-q13 deletion. Therefore, the absence of reproduction previously seen in individuals with AS was most likely social or cognitive rather than physiologic in origin.

Young adults appear to have good physical health with the exception of possible seizures. Constipation is common. Scoliosis becomes more common with advancing age. Independent living is not possible for adults with AS, but most can live at home or in home-like placements. Life span data are not available, but life span appears to be nearly normal.

This entry was posted on Wednesday, March 21st, 2007 at 1:13 pm and is filed under Angelman Syndrome.