Search
fragile X syndrome
23/08/2011

PSYCHIATRIC COMORBIDITY IN FRAGILE X SYNDROME: NEW ACQUISITIONS

Fragile X Syndrome (SXF) is caused by an excess of repetitions, more than 200, of the CGG trinucleotide in fragile X mental retardation gene 1, whose name is derived from this condition. Oversupply of repetitions between 55 and 200 are classified as premutations and can expand to full mutations of the maternally inherited abnormal allele.

The typical psychological profile of persons with SXF often includes cognitive deficits, behavioral disorders, psychiatric comorbidity, and autistic characteristics. Today it is known that carriers of premutation may show mild cognitive and behavioral deficits or other  physical problems.
Specific psychiatric aspects of the syndrome have not yet been clarified, especially in relation to age and genetic organization.
The research team of Lidia Gabis at the Weinburg Center for Child Development at Tal Hashomer (Israel) has recently sought to bring new knowledge to this field. To pursue this goal, 20 parents out of a sample of 28 persons with SXF were asked to complete a questionnaire on the presence of behavioral or psychiatric symptoms and the level of function of the children with SXF and of their healthy siblings.
The results confirm that in persons with SXF psychiatric disorders are very frequent. The attention deficit hyperactivity disorder, specific phobias, and vocal tics have been present in about half of the participants. One third met the criteria for autistic symptoms- schizoid personality. There were no people affected by disorders of conduct or depression disorders.
In the group of siblings, not carriers of the syndrome, were found to have various types of anxiety behaviors (specific phobias, obsession, compulsion), post-traumatic stress disorders, and motor tics. The prevalence of compulsions and post-traumatic stress disorder was even higher in unaffected siblings than people with SXF.
The study indicated that the psychiatric profile of people with SXF changes with age. Adolescents have shown a lower prevalence of functional and behavioral deficits. The number and severity of psychiatric comorbidity were lower in older people. Only the prevalence of generalized anxiety disorder seems to increase with age.
Also has been working for over a year to characterize psychiatric- and its relation to specific cognitive dysfunction- of the various genetic syndromes including intellectual disabilities.
 
References
- Lidia V. Gabis, Yael Kesner Baruch, Ariela Jokel, and Raanan Raz. Psychiatric and Autistic Comorbidity in Fragile X Syndrome Across Ages. Journal of Child Neurology, 2011; 26(8) 940-948.
Marco O. Bertelli