Chromosome 10q deletion del (10)(q26.1q26.3) is associated with cataract.

Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25-10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease, genitourinary anomalies, digital anomalies, and strabismus. We report for the first time a patient with de novo 10q interstitial deletion del (10)(q26.1q26.3) and cataract.

Correlation between epilepsy and attention deficit hyperactivity disorder: a population-based cohort study.

BACKGROUND: This study presents an evaluation of the bidirectional correlation between attention deficit hyperactivity disorder (ADHD) and epilepsy using 2 cohorts from the same population database. METHODS: We used data from the Taiwan National Health Insurance Research Database to establish 2 separate cohort studies with participants <19 years old. We subdivided Cohort 1 in 2 groups: (1) 2468 patients initially diagnosed with epilepsy during the period 1999-2008, and (2) 9810 randomly selected sex- and age-matched non-epileptic controls. We subdivided Cohort 2 into 2 groups: (1) 3664 patients with newly diagnosed ADHD and (2) 14 522 sex- and age-matched non-ADHD patients. We evaluated the risk of subsequent ADHD in relationship to epilepsy and vice versa in the 2 cohorts at the end of 2008. RESULTS: The ADHD incidence in Cohort 1 was 7.76 in patients with epilepsy and 3.22 in those without epilepsy (per 1000 person-years) after a median follow-up of 7-7.5 years. The adjusted hazard ratio (HR) for ADHD was 2.54 (95% CI 2.02-3.18) in the epilepsy group compared to the non-epilepsy group. In Cohort 2, the incidence of epilepsy was 3.24 in patients with ADHD and 0.78 in those without ADHD (per 1000 person-years) after a median follow-up of 3-3.5 years and an HR of 3.94 (95% CI 2.58-6.03). CONCLUSION: This study shows a bidirectional association between ADHD and epilepsy in the 2 cohort studies. Causative factors may be common between these 2 disorders, leading to a cascade of transcriptional changes in the brain that alter behavior or cognition prior to seizures.

Bidirectional relation between schizophrenia and epilepsy: a population-based retrospective cohort study.

PURPOSE: Schizophrenia and epilepsy may share a mutual susceptibility. This study examined the bidirectional relation between the two disorders. METHODS: We used claims data obtained from the Taiwan National Health Insurance database to conduct retrospective cohort analyses. Analysis 1 compared 5,195 patients with incident schizophrenia diagnosed in 1999-2008 with 20,776 controls without the disease randomly selected during the same period, frequency matched with sex and age. Analysis 2 comprised a similar method to compare 11,527 patients with newly diagnosed epilepsy with 46,032 randomly selected sex- and age-matched controls. At the end of 2008, analysis 1 measured the incidence and risk of developing epilepsy and analysis 2 measured the incidence and risk of developing schizophrenia. KEY FINDINGS: In analysis 1, the incidence of epilepsy was higher in the schizophrenia cohort than in the nonschizophrenia cohort (6.99 vs. 1.19 per 1,000 person-years) with an adjusted hazard ratio (aHR) of 5.88 [95% confidence interval (CI) 4.71-7.36] for schizophrenia patients. In analysis 2, the incidence of schizophrenia was higher in the epilepsy cohort than in the nonepilepsy comparison cohort (3.53 vs. 0.46 per 1,000 person-years) with an aHR of 7.65 (95% CI 6.04-9.69) for epilepsy patients. The effect of schizophrenia on subsequent epilepsy was greater for women, but the association between epilepsy and elevated incidence of schizophrenia was more pronounced in men. SIGNIFICANCE: We found a strong bidirectional relation between schizophrenia and epilepsy. These two conditions may share common causes. Further studies on the mechanism are required.

Correlation of Tourette syndrome and allergic disease: nationwide population-based case-control study.

OBJECTIVE: Linkage between allergy and increased immune response activation in Tourette syndrome (TS) has been reported. We performed a matched case-control study to evaluate correlation between allergic diseases and TS. METHODS: Data in this case-control study were from the Taiwan National Health Insurance Research Database. The sample comprised 845 2- to 18-year-old patients with newly diagnosed TS in 2003­2007 and 3378 controls frequency matched with cases on age, sex, and urbanization level. Unconditional logistic regression estimated odds ratios (ORs) and 95% confidence intervals (CIs) of the association between allergic disease (e.g., allergic rhinitis, atopic dermatitis, asthma, and allergic conjunctivitis), the number of allergic comorbidities, and TS. RESULTS: The majority (76.0%) of incident TS cases were boys; the 4 allergic diseases strongly correlated with higher risk of TS. In a model simultaneously considering all 4 allergic diseases, subjects with allergic rhinitis showed double the risk of TS (adjusted OR = 2.18, 95%CI 1.83­2.59; p < 0.0001); adjusted ORs were 1.82, 1.61, and 1.33, respectively, for asthma (95% CI 1.47­2.24; p < 0.0001), dermatitis (95%CI 1.32­1.95; p < 0.0001), and allergic conjunctivitis (95% CI 1.13­1.57; p < 0.001). Risk increased with number of comorbidities (p < 0.0001); this association was positively modified by age (p < 0.0001). CONCLUSIONS: Our data showed significant correlation between allergic diseases and TS. Risk also increased with number of allergic comorbidities and with age. Further studies on the mechanism of neuroimmunology of TS are required.