Fifty-two percent of the individuals in this cohort present with severe intellectual disability at the age of assessment, 36% have a moderate disability and 12% have a mild disability.
Developmental delay is present in all individuals, with motor delay being one of the key features.
Seventy-eight percent of the children had hypotonia, while hypertonia was present in three children.
Another key feature is speech delay which presents in 98.6% of individuals.
Sixteen percent have seizures, including absence seizures, focal seizures with reduced awareness, epilepsy with Continuous Spike and Waves during Slow Wave Sleep (CSWS), or unclassified seizures.
Ninety-three percent of the individuals present with autistic features (Fig. 3-B). Sixty-seven percent of them have been reported to have a clinical diagnosis of ASD.
Sixty-seven percent have also been diagnosed with sensory processing disorder.
Several present with obsessive compulsive behavior, mood disorder, a high anxiety level, temper tantrums, self-injurious and (verbally) aggressive behavior.
Forty-four percent of the individuals are hyperactive or easily distracted. About one third of them have a diagnosis of Attention Deficit Hyperactivity Disorder (ADHD).
Sleep problems are present in 65.2%.
Fifty-six percent of them appeared to have cerebral abnormalities, including atypical white matter lesions, delayed myelination, cortical dysplasia or atrophy, perinatal hypoxic ischemic encephalopathy, hydrocephalus, and hippocampal hypoplasticity (Fig. 3-C)
Visual problems were present in 73.6% of the individuals, especially hypermetropia (40.3%) and strabismus (49.2%), but also myopia and astigmatism (Fig. 3-E).
Interestingly, individuals with a p.Tyr719* mutation start walking at 3.5 years, significantly later than the 2 years and 2 months of the remainder of the cohort (p<0.0001, One Way Anova).
BEL Commons is developed and maintained in an academic capacity by Charles Tapley Hoyt and Daniel Domingo-Fernández at the Fraunhofer SCAI Department of Bioinformatics with support from the IMI project, AETIONOMY. It is built on top of PyBEL, an open source project. Please feel free to contact us here to give us feedback or report any issues. Also, see our Publishing Notes and Data Protection information.
If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.