Objectives: There are few studies on epilepsy and psychopathology in people with intellectual disability (mental retardation) despite epilepsy prevalence rates that are thirty times higher than in the general population. The aims of this study, therefore, were to identify reliable, epilepsy-specific predictors of psychiatric and behavioural disorder in these patients, and to investigate reliable predictors of carer stress. Methods: A database of 685 patients was compiled, from which 250 were randomly selected. Structured interviews were completed on 186 of these 250 patients (74%) (108 men, 78 women; mean age (SD) 35.5 (10.1)) comprising descriptive, clinical and functional components, and validated measures of psychopathology for which comparative data were available. Logistic and linear regression methods were used to identify predictors. Results: One-third of patients with epilepsy and intellectual disability met criteria for possible psychiatric disorder, particularly affective/neurotic disorder; twice the comparison rates for intellectual disability alone. Behavioural problem levels, however, were lower than population norms. Regression models explaining modest amounts of variance (R 2 (24%) suggested certain seizure phenomena (greater seizure severity, more seizures in past month, lesser tendency to loss of consciousness during seizures) as particular risk factors for psychiatric disorder. General disability factors such as level of intellectual, sensory or motor disability and side effects of medication, however, contributed more to explaining behavioural problems. Around half of the family carers reported significant stress, and one-third exhibited clinically significant anxiety symptoms. Younger carers were more stressed, and side effects from patients' medication also contributed to carer stress. Conclusions: Although epilepsy in itself may be a risk factor for psychopathology in a minority of people with intellectual disability, some epilepsy-specific factors may predict psychiatric disorder. Behavioural problems need to be considered separately from psychiatric disorder because general factors, more closely associated with disability, are stronger predictors of their occurrence.

Analysis of genetic linkage to dyslexia was performed using 133,165 array-based SNPs genotyped in 718 persons from 101 dyslexia-affected families. Results showed five linkage peaks with lod scores >2.3 (4q13.1, 7q36.1-q36.2, 7q36.3, 16p12.1, and 17q22). Of these five regions, three have been previously implicated in dyslexia (4q13.1, 16p12.1, and 17q22), three have been implicated in attention-deficit hyperactivity disorder (ADHD, which highly co-occurs with dyslexia; 4q13.1, 7q36.3, 16p12.1) and four have been implicated in autism (a condition characterized by language deficits; 7q36.1-q36.2, 7q36.3, 16p12.1, and 17q22). These results highlight the reproducibility of dyslexia linkage signals, even without formally significant lod scores, and suggest dyslexia predisposing genes with relatively major effects and locus heterogeneity. The largest lod score (2.80) occurred at 17q22 within the MSI2 gene, involved in neuronal stem cell lineage proliferation. Interestingly, the 4q13.1 linkage peak (lod 2.34) occurred immediately upstream of the LPHN3 gene, recently reported both linked and associated with ADHD. Separate analyses of larger pedigrees revealed lods >2.3 at 1-3 regions per family; one family showed strong linkage (lod 2.9) to a known dyslexia locus (18p11) not detected in our overall data, demonstrating the value of analyzing single large pedigrees. Association analysis identified no SNPs with genomewide significance, although a borderline significant SNP (P = 6 × 10 -7 ) occurred at 5q35.1 near FGF18, involved in laminar positioning of cortical neurons during development. We conclude that dyslexia genes with relatively major effects exist, are detectable by linkage analysis despite genetic heterogeneity, and show substantial overlapping predisposition with ADHD and autism.

Genetic counseling is a well-established healthcare discipline that provides individuals and families with health information about disorders that have a genetic component in a supportive counseling encounter. It has recently been applied in the context of psychiatric disorders (like schizophrenia, bipolar disorder, schizoaffective disorder, obsessive compulsive disorder, depression and anxiety) that typically appear sometime during later childhood through to early adulthood. Psychiatric genetic counseling is emerging as an important service that fills a growing need to reframe understandings of the causes of mental health disorders. In this review, we will define psychiatric genetic counseling, and address important ethical concerns (we will particularly give attention to the principles of autonomy, beneficence, non-maleficence and justice) that must be considered in the context of its application in adolescent psychiatry, whilst integrating evidence regarding patient outcomes from the literature. We discuss the developing capacity and autonomy of adolescents as an essential and dynamic component of genetic counseling provision in this population and discuss how traditional viewpoints regarding beneficence and non-maleficence should be considered in the unique situation of adolescents with, or at risk for, psychiatric conditions. We argue that thoughtful and tailored counseling in this setting can be done in a manner that addresses the important health needs of this population while respecting the core principles of biomedical ethics, including the ethic of care.

No abstract

No abstract