Warburg Micro Syndrome is a neurodevelopmental disorder. Children with this condition typically have microcephaly and brain malformations including bilateral frontal polymicrogyria, thin corpus callosum and small cerebellum. In addition, some children may have mildly enlarged lateral ventricles. [Graham et al., 2004] [Handley et al., 2013]
Microcephaly is defined as having a small head size due to abnormal brain development.
At birth, MaryEllen’s and Kevin’s head circumferences were normal. During their first year of life, their head growth lagged until it fell well below the norms that pediatricians measure for. That was one of our first indications that MaryEllen and Kevin had something more going on than just congenital cataracts. People with microcephaly usually have some degree of developmental disability.
These are MaryEllen’s and Kevin’s MRIs :
Both children’s MRIs show bilateral frontal polymicrogyria, thin corpus callosum and enlarged lateral ventricles. Kevin also has a small cerebellar vermis. MaryEllen also had (aqueductal stenosis) hydrocephalus at birth. This is not a typical finding in Warburg Micro Syndrome.
So, what does this all mean?
Polymicrogyria in the frontal lobes can result in oral motor, speech and swallowing difficulties. There may also be different degrees of cognitive and motor delays.
MaryEllen and Kevin are more severely affected than many other children with WMS. (Warburg Micro Syndrome) They never had complete head control. MaryEllen could sit independently in a cross-legs position for under two minutes while Kevin could not. As infants, they were never able to master rolling from a back to front or front to back position. They were able to roll to the front and back from a side lying position. They stood in a supported standing position using a standing device but were not able to support their weight.
Before the age of five, MaryEllen was able to scoot on her back while on the floor by digging her heels into the carpet and propelling herself head first. She was able to cross a room rather quickly this way. Kevin was not able to gain this ability but was quite active in a bouncy seat that hung in a doorway.
MaryEllen was able to have good use of her hands when she was younger. She held items and was able to transfer from hand to hand. She was also able to hold her hands in midline well. She never developed a pincer grasp. Kevin did not use his hands purposefully. Both children exhibited cortical thumbs (at rest) until six or seven years of age.
MaryEllen’s and Kevin’s oral motor development was slow. As infants, they fed well with a bottle. They also did well with stage 1 and 2 baby foods. Chewing was always difficult for them and they never progressed past very soft foods. They were able to handle small pieces of brownie or soft cookie, small pieces of soft noodles, and eggs. As they got older, all foods were pureed and spoonfed. Drinking from a cup was difficult due to thin liquid consistency. They were able to handle honey consistency well. Swallowing for both kids was difficult. Even with the a perfect consistency for them, it took a few swallows to fully swallow a bolus of food.
MaryEllen and Kevin cooed as infants. MaryEllen progressed to consonant sounds and said “ba-ba-ba” and “ma-ma-ma”. They never progressed to forming words. Many children with WMS do say words.
Due to low oral-motor tone, both kids have difficulty closing their mouths and drool sometimes.
For more information about Warburg Micro Syndrome as it relates to MaryEllen and Kevin, please see The Warburg Micro Syndrome Series 2016.
Graham, J. M., Jr., Hennekam, R., Dobyns, W. B., Roeder, E., Busch, D. MICRO syndrome: an entity distinct from COFS syndrome. Am. J. Med. Genet. 128A: 235-245, 2004.
Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome. Hum. Mutat. 34: 686-696, 2013.
If you have any questions about anything related to development and the brain in Warburg Micro Syndrome, please leave a comment, and I will be happy to answer.