Family trios analysis of common polymorphisms in the obestatin/ghrelin, BDNF and AGRP genes in patients with Anorexia nervosa: association with subtype, body-mass index, severity and age of onset.

Anorexia nervosa (AN) affects 0.3% of young girls with a mortality of 6%/decade and is strongly familial with genetic factors. Ghrelin is an upstream regulator of the orexigenic peptides NPY and AgRP and acts as a natural antagonist to leptin's effects on NPY/AgRP-expressing neurons, resulting in an increase in feeding and body weight. Obestatin which counteracts ghrelin action on feeding is derived from the same propeptide than ghrelin. BDNF has been involved in body weight regulation and its Val66Met polymorphism associated with AN. We therefore re-investigated the association between AN and the Leu72Met and Gln90Leu polymorphisms of the prepro-ghrelin/obestatin gene, the Ala67Thr polymorphism of AgRP and the Val66Met polymorphism of BDNF taking into account clinical subtypes (restrictive--ANR--and bingeing/purging--ANB--subtypes). Family trios study of these 4 single nucleotide polymorphisms were performed in 114 probands with AN and both their parents recruited in two specialized French centres. A transmission disequilibrium was observed for the Leu72Met SNP of the preproghrelin gene and for the Ala67Thr SNP of the AgRP gene. When stratified by clinical subtype, these two polymorphisms were preferentially transmitted for the trios with a bingeing/purging proband. An excess of transmission of the Gln90Leu72 preproghrelin/obestatin haplotype in patients with AN was observed. These results do not provide evidence for a preferential transmission of the 66Met allele of BDNF but support the hypothesis that ghrelin and AGRP polymorphisms confers susceptibility to AN. Further simultaneous analysis of genetic variants of the biological determinants of energy metabolism and feeding behaviour in very large populations should contribute to the understanding of the high degree of heritability of eating disorders and to the description of pathophysiological patterns leading to life-threatening conditions in a highly redundant system.

Treating the cause of illness rather than the symptoms: parental causal beliefs and treatment choices in autism spectrum disorder.

OBJECTIVES: To explore the relationship between causal beliefs on autism (CBA) and treatment choices. DESIGN AND METHODS: A cross-sectional design was employed. Parents of a child with autism spectrum disorder (ASD) were asked to complete the Lay-Beliefs about Autism Questionnaire (LBA-Q) and answer questions about treatments used. Only items inquiring about a cause of autism were retained for analysis. Series of forward stepwise logistic regressions were performed with each treatment as dependent variable and the scores given to each of the CBA items as independent variables. RESULTS: 78 parents were included. The most strongly held causal beliefs were brain abnormalities and genetic factors. Parents who had more beliefs in the causal role of very early traumatic experiences were less likely to use behavior therapy and PECS. Higher beliefs in illness during pregnancy increased the odds of medication use. Stronger beliefs on the role of food allergy were associated with higher use of detoxification treatments, special diets, and vitamins. On the contrary, these beliefs reduced the odds of drug use. CONCLUSIONS: Causal beliefs are associated with treatment choices. Such preliminary results highlight the value of continued studies, not only to establish the causal nature of these associations, but also to demonstrate the utility of modifying such beliefs for both parents' and child's benefits. Identifying parents' beliefs about their child's illness may be an important step in formulating interventions facilitating appropriate care.

Treatment choices in autism spectrum disorder: the role of parental illness perceptions.

A cross-sectional design was employed. Parents of a child with Autism Spectrum Disorder (ASD) were asked to complete a modified version of the Revised Illness-Perception Questionnaire (IPQ-RA) and answer questions about information-seeking activities and treatments used. Internal consistency, construct validity, and factor structure were assessed. Multivariate logistic regressions were performed. Eighty-nine parents having a child with ASD took part in the study. Five subscales of the IPQ-R were replicated. Causes were split into personal, external and hereditary factors. The most highly rated main cause was a genetic cause. Perception of seriousness of the disease was associated with the use of educative methods and unpredictable course of disorder associated with drug use. A higher sense of personal control was associated with reduced use of nutritional or pharmaceutical treatments. Attendance to training programs was associated with higher hereditary beliefs and lower perception of cyclical timeline. The IPQ-RA captures components of representations of autism and provides a reliable mean for exploring illness concept in parents of a child with ASD. Some illness dimensions may prevent parents from having the opportunity to modify their concept of autism. Such measure may be useful for assessing the modification of potentially malleable beliefs with psychoeducational interventions.