Age dependent association of inbreeding with risk for schizophrenia in Egypt.

BACKGROUND: Self-reported consanguinity is associated with risk for schizophrenia (SZ) in several inbred populations, but estimates using DNA-based coefficients of inbreeding are unavailable. Further, it is not known whether recessively inherited risk mutations can be identified through homozygosity by descent (HBD) mapping. METHODS: We studied self-reported and DNA-based estimates of inbreeding among Egyptian patients with SZ (n = 421, DSM IV criteria) and adult controls without psychosis (n = 301), who were evaluated using semi-structured diagnostic interview schedules and genotyped using the Illumina Infinium PsychArray. Following quality control checks, coefficients of inbreeding (F) and regions of homozygosity (ROH) were estimated using PLINK software for HBD analysis. Exome sequencing was conducted in selected cases. RESULTS: Inbreeding was associated with schizophrenia based on self-reported consanguinity (χ2 = 4.506, 1 df, p = 0.034) and DNA-based estimates for inbreeding (F); the latter with a significant F × age interaction (ß = 32.34, p = 0.0047). The association was most notable among patients older than age 40 years. Eleven ROH were over-represented in cases on chromosomes 1, 3, 6, 11, and 14; all but one region is novel for schizophrenia risk. Exome sequencing identified six recessively-acting genes in ROH with loss-of-function variants; one of which causes primary hereditary microcephaly. CONCLUSIONS: We propose consanguinity as an age-dependent risk factor for SZ in Egypt. HBD mapping is feasible for SZ in adequately powered samples.

Consanguinity associated with increased risk for bipolar I disorder in Egypt.

We aimed to contrast rates of consanguinity among patients with bipolar I disorder (BP1) and controls in a population with customary consanguineous marriages (i.e., marriage between related individuals). Consanguinity increases risk for numerous monogenic and polygenic diseases. Whether the risk for BP1 increases with consanguinity has not been investigated systematically. Two independent studies were conducted in Egypt: (1) Case-control study 93 patients with BP1, 90 screened adult control individuals, and available parents. The inbreeding coefficient/consanguinity rate was estimated in two ways: using 64 DNA polymorphisms ("DNA-based" rate); and from family history data ("self report"); (2) Epidemiological survey: total of 1,584 individuals were screened, from whom self-reported consanguinity data were obtained for identified BP1 cases (n = 35) and 150 randomly selected, unaffected control individuals. DNA-based consanguinity rates showed significant case-control differences (P = 0.0039). Self-reported consanguinity rates were also elevated among BP1 patients in both samples (Study #1 OR = 2.66, 95% confidence intervals, CI: 1.34, 5.29; Study #2: OR = 4.64, 95% CI: 2.01, 10.34). In conclusion, two independent, systematic studies indicate increased consanguinity among Egyptian BP1 patients in the Nile delta region. Self-reported estimates of consanguinity are bolstered by DNA-based estimates, and both show significant case-control differences for BP1.

Assessing the intelligence of children with chronic kidney diseases.

To evaluate the level of intelligence in children with chronic kidney diseases (CKDs), 12 children with CKD stage 5 on regular hemodialysis, 12 children in the predialysis stage, and 12 as controls were assessed using the Wechsler Intelligence Scale for Children (WISC). Mean scores on the verbal, performance, and full scale IQ were significantly lower in the predialysis and dialysis children than in the healthy children, while the mean score on the arithmetic subtests was significantly lower in the predialysis children than in the dialysis group. In conclusion, a better understanding of the neurocognitive function in children with CKDs is a critical element to be ascertained early with proper assessment programs so as to design appropriate educational interventions for this handicapping illness.

Coping with stress and quality of life in schizophrenic patients.

OBJECTIVE: Explore the patterns of coping among schizophrenic patients employed in the face of general day-to-day stressors and its correlates, study the effect of schizophrenic illness on quality of life, its relation to psychiatric symptoms. PATIENTS AND METHODS: 70 patients with chronic stable schizophrenia were enrolled. Data on sociodemographic and clinical variables were recorded. The following scales were utilized: scale for assessment of positive symptoms (SAPS), scale for assessment of negative symptoms (SANS), Brief Cope scale, Self report Quality of life for schizophrenia (SQLS), three subtest short form of WAIS. RESULTS: On average, each patient used 12 coping strategies. Acceptance and distraction coping strategies were most commonly employed. No correlations were found between different sociodemographic variables, family history of illness, duration of illness or diagnostic subtype and total number of coping strategies used. SAPS score was correlated with acceptance (r=.580, p=.000), less self blame (r=-.305, p=.010), while SANS score was correlated with venting (r=.258, p=.031). Participants with higher IQ estimates reported more active coping (r=.298, p=.012) and religion (r=.235, p=.050). Most scales for Quality of life were impaired. SAPS was correlated only with Psychosocial scale, SANS was correlated with all scales of SQLS, while it showed no correlation with the total number of coping strategies. CONCLUSIONS: Patients with schizophrenia used numerous coping strategies to deal with stress. Lack of correlation with coping strategies suggests that coping efforts are determined by the individual's personality and coping resources, rather than by illness characteristic. Schizophrenic symptoms, especially negative symptoms, had a major impact on SQOL.