COGNITIVE DYSFUNCTIONS AND PSYCHIATRIC SYMPTOMS IN THE MARSHALL-SMITH SYNDROME

A new contribution to the development of the problem comes from a recent exploratory Dutch study of Marshall-Smith syndrome. This syndrome, described for the first time in 1971, is characterized an intellectual disability, abnormal bone development, retardation in growth, a severe respiratory disease and facial dysmorphism.

Recent research has identified an important association of the syndrome with a mutation of the gene NFIX (transcription factor of nuclear factor I). Currently the function of this gene is not entirely clear, but seems to have an important role in the development of the telencephalon and the skeleton.

In the 19 cases examined, from 11 different countries around the world, Van Balkom and colleagues found a high prevalence of behaviors similar to those present in autism. More frequently they were inflexible results, with or without tantrums, stereotyped and repetitive play and limitations in imaginative play. For six of these children, the researchers were able to conduct a detailed evaluation of the adaptive and cognitive capacity, in which emerged a marked difficulty in following the gaze of others to objects of interest, imitating others, understanding the significance of others, and maintaining a suitable distance (for approach and departure) in the interaction.

In contrast to the characteristics described above, the children studied often showed a good capacity for general social skills, especially compared to other areas of functioning. Particularly noticeable were some expressions of affection in the towards their parents, the joy of anticipation and the imitation of simple actions.

 

REFERENCES
van Balkom I.D.C., Shaw A., Vuijk P.J., Franssens M., Hoek H.W. & Hennekam R.C.M. Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism. Journal of Intellectual Disability Research, 2011, 55(10): 973-987