Little backstory

I have two sons, both of whom have autism. The one I know is most likely caused by a little known disorder called 22q.11.2 microduplication. Wow, is that a mouthful? I know, but there is no shorter name for it. I am told this is a rare disorder, but really it is not often diagnosed. This is because not all doctors know or want to test for genetic conditions that could be causing autistic spectrum disorders. I guess I just got lucky, but really, I am lucky because he does not have any other complications or issues that go with the disorder besides intellectual and behavioral issues. He may be off balance with some hormones too, but no big deal. All this can be managed without having to go two hours away to see specialists. Microduplication 22q11.2 is a recently discovered genomic disorder. So far, targeted research on the cognitive and behavioral characteristics of individuals with this microduplication is limited. Therefore, 11 Flemish children (3–13 years old) with a microduplication of 22q 1.2 were investigated in order to describe their clinical, developmental, and behavioral characteristics. We measured their general intelligence, visual-motor capacities, attention, behavioral problems, and characteristics of autism. In addition, there was an interview with the parents on developmental history, and we reviewed available information from other specialists. The results show that the cognitive and behavioral phenotype of the children with microduplication 22q.11.2 is very broad and heterogeneous. Some of the children have nearly normal cognitive development, whereas others are more severely affected. All children have some degree of developmental delay, and some of them have an intellectual disability. The most common clinical features include congenital malformations such as heart defects and cleft lip; feeding problems; hearing impairment; and facial dysmorphism. The most common non-medical problems are learning difficulties, motor impairment, attention deficits, social problems, and behavioral problems. There is no correlation between the size of the duplication and the phenotype. I will not bore you all with the sciencey talk, but if you have questions, please ask and I will inform you.

References

Campenhout, S & Devriendt, K & Breckpot, Jeroen & Frijns, J-P & Peeters, H & Buggenhout, Griet & Esch, H & Maes, Bea & Swillen, Ann. (2012). A description of the clinical, developmental, and behavioral characteristics during childhood Genetic counseling (Geneva, Switzerland). 23. 135-48.