Cognitive endophenotypes in OCD: A study of unaffected siblings of probands with familial OCD

Background

Impairments in executive functions and non-verbal memory are considered potential endophenotype markers of obsessive–compulsive disorder (OCD). For the neuropsychological deficits to be considered endophenotypes, they should be demonstrable in unaffected family members.

Aim

To compare the neuropsychological performance in unaffected siblings of probands with familial OCD with that of individually matched healthy controls.

Methods

Twenty-five unaffected siblings of OCD probands with familial OCD, and 25 individually matched healthy controls were assessed with tests of attention, executive function, memory and intelligence.

Results

Unaffected siblings showed significant deficits in tests of decision making and behavioural reversal i.e., the Iowa Gambling Task (IGT) and the Delayed Alternation Test (DAT) respectively, but performed adequately in other tests.

Conclusions

Our study suggests that the deficits in decision making and behavioural reversal could be potential endophenotypes in OCD. These deficits are consistent with the proposed neurobiological model of OCD involving the orbitofrontal cortex. Future studies could couple cognitive and imaging strategies to identify neurocognitive endophenotypes in homogenous samples of OCD.     

Clinical,Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population

Homozygous Hb E [β26(B8)Glu→Lys; HBB: c.79G?>?A] is a clinically mild disease with no significant symptoms. Very few studies are available on clinical variability in Hb E disorders. We report the profile of a series of homozygous Hb E patients in the Indian population. We analyzed various genetic factors that contribute to the heterogeneity in the phenotype of homozygous Hb E patients. Analysis of these parameters further enhances our understanding of the Hb E syndrome.     

Application of bilateral pedicled buccal fat pad in wide primary cleft palate

We have used the pedicled buccal fat pad in a patient with a wide unilateral cleft palate when there was tension in the nasal layer even after complete release. The levator muscle was dissected and repositioned and the nasal layer was released transversely at the site of maximum tension between the hard and soft palate. The pedicled flap was placed into this defect. Pedicled buccal fat pad can be brought from the lateral releasing incision itself without adding another donor site. The postoperative course was uneventful.     

Complex families,the social determinants of health and psychosocial interventions: Deconstruction of a day in the life of hospital social workers

The roles of hospital social workers are delineated in the literature; however, their daily interventions have only been described anecdotally. This study analyzes the daily work of social workers in a pediatric hospital through a survey completed which examined factors related to interventions utilized and time spent per case over a 1-day period. Length and types of interventions were associated with the social determinants of health, time since diagnosis, biopsychosocial issues, and perception of complexity. The study offers a snapshot of the personalized expertise, provided by social workers that addresses complex contextual and biopsychosocial concerns of patient and families