Psychopathology in adults with 22q11 deletion syndrome and moderate and severe intellectual disability

Abstract

This is the first report addressing adult patients with 22q11DS and moderate to severe ID. Overall we found high levels of psychopathology with higher scores of psychopathology in the intellectual decline group. Life time psychosis seems to be related to deterioration.

Cognitive Decline Preceding the Onset of Psychosis in Patients With 22q11.2 Deletion Syndrome

“…Another limitation is insufficient data to estimate IQ changes beyond age 24, although there is evidence suggesting further cognitive decline in some adults with 22q11DS. 64 Ongoing data collection in several 22q11DS cohorts will provide such information. Finally, no information was available regarding socioeconomic status of the subjects.…”

Practical guidelines for managing adults with 22q11.2 deletion syndrome

“…With respect to the diagnosis and treatment of psychiatric disorders, challenges exist in the minority of adults with moderate or severe intellectual disability, 12,17 including communication limitations that may hinder the recognition or assessment of treatment response using standard measures. In most cases these challenges can be overcome with expert care.…”

“…21,23,28,34 More severe intellectual disability is rare, 9,23,35 but 22q11.2DS may be under-recognized in this subgroup. 12 A minority of individuals have intellect in the average range, although various learning difficulties may still be present, for example, in arithmetic skills. 9,23,36 These may require accommodations in postsecondary education and workplace settings.…”

“…Individuals with severe intellectual disability and psychotic illness may develop a form of dementia. 12 …”

Делеція 22q11.2 хромосоми: світові критерії визначення, стандарти діагностики та моніторингу

“…Діагностика синдрому делеції 22q11.2 проводить-ся флуоресцентною гібридизацією in situ (методика недостатньо чутлива для виявлення делецій < 40 kb у межах 22q11.2) та більш чутливими методиками: мультиплексною лігазною ланцюговою реакцією (multiplex ligation-dependent probe amplification -MLPA) або за допомогою хромосомного мікрочіпу (chromosomal microarray -CMA) [23,24].…”