Children with Angelman Syndrome consistently exhibit autism-like traits, which remain consistent throughout their lives.

In a comprehensive study published in the journal Autism Research, a research group led by Sebastian E. Sand et al. delved into the age-related trajectories of autistic traits in children with Angelman syndrome.

The study, titled "Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome," evaluated symptoms in 107 children with Angelman, ages 2-18, who were seen at a specialist center in the Netherlands.

Angelman syndrome is a rare neurodevelopmental disease caused by genetic abnormalities affecting the UBE3A gene. The most common type of genetic defect causing Angelman syndrome is called the deletion genotype.

The researchers found that three-quarters of the participants had Autism Diagnostic Observation Schedule (ADOS) scores indicating autistic traits, with higher scores reflecting more autistic traits. Interestingly, ADOS scores on the social affect subscale, which evaluates social interaction and communication, decreased over time, while scores on the restricted/repetitive behaviors subscale remained unaffected.

Scores on the Social Responsiveness Scale, another measure of autistic-like traits, were higher in children with the deletion genotype and male children. Sensory problems and other features of autism spectrum disorder (ASD) were prevalent in children with Angelman syndrome and were generally stable over time.

Scores on the Short Sensory Profile (SSP), which evaluates sensory issues, were "exceptionally low," indicating children with Angelman have significantly more sensory processing problems than children in the general population.

Children with the deletion genotype exhibit more autistic traits than those with other disease-causing genetic abnormalities. Total ADOS scores and scores on each of its subscales were higher in children with the deletion genotype than with other types of genetic abnormalities.

The researchers suggested that a diagnosis of ASD in Angelman should be made using a combination of diagnostic instruments, information from different sources, and expert clinical opinion in a multidisciplinary team. They also emphasised the need for routine assessments of ASD features in children with Angelman to ensure they receive proper care.

Incorporating the assessment of autistic traits and sensory processing into clinical practice for Angelman syndrome is important to inform adaptations of the environment to meet the child's needs, the researchers added.

The study also found that SSP scores weren't influenced by age or genetic factors, although scores for certain subscales differed across genetic disease subtypes and sexes. ADOS scores decreased with age in children with UBE3A mutations, but remained stable in those with the deletion genotype over time.

The research project was conducted by the research group led by Sebastian E. Sand et al., and the results were published in the journal "Autism Research." The researchers hope that their findings will contribute to a better understanding of the development and management of ASD in children with Angelman syndrome.