Health indicators in intellectual developmental disorders: The key findings of the POMONA-ESP project.

BACKGROUND: The aim of this paper was to summarize the main results of the POMONA-ESP project, the first study to explore health status in a large representative, randomized and stratified sample of people with intellectual developmental disorders in Spain. METHODS: The POMONA-ESP project collected information about the health of 953 individuals with intellectual developmental disorders. RESULTS: Diseases such as urinary incontinence, oral problems, epilepsy, constipation or obesity were highly prevalent among the participants; with gender-differentiated prevalences for certain conditions, and age and intellectual disability level as risk factors for disease. Overmedication was common in the sample, and drugs were often prescribed without any clinical indication or follow-up. The present authors also found a lack of important relevant information about the participant's health and a lack of adequate genetic counselling. CONCLUSIONS: Our findings may contribute to a better understanding of health status and needs of people with intellectual developmental disorders and suggest several courses of action to improve their health care.

The POMONA-ESP project methodology: Collecting data on health indicators for people with intellectual developmental disorders.

BACKGROUND: People with intellectual developmental disorders have significant health disparities and a lack of proper attention to their health needs. They have been underrepresented in scientific research, and very few studies have been carried out using a representative randomized sample. The aim of this study was to describe the methods used in the POMONA-ESP project to recruit a representative and randomized sample of participants with intellectual developmental disorders. METHODS: The POMONA-ESP project is an observational cross-sectional study. It aims to explore the health status of people with intellectual developmental disorders across Spain and the use they make of health services. RESULTS AND CONCLUSIONS: The results of the POMONA-ESP project may have a major impact on people with intellectual developmental disorders and society in general. It is the first study to obtain geographically representative epidemiological data from a large sample, information that is fundamental to improving care and healthcare planning for people with intellectual developmental disorders.

Psychometric Properties of Spanish Adaptation of the PDD-MRS Scale in Adults with Intellectual Developmental Disorders: The EVTEA-DI Scale.

Strategies for the early detection of autism spectrum disorders (ASD) in people with intellectual developmental disorder (IDD) are urgently needed, but few specific tools have been developed. The present study examines the psychometric properties of the EVTEA-DI, a Spanish adaptation of the PDD-MRS, in a large randomized sample of 979 adults with IDD. Factorial solution analysis suggested a three-factor solution (stereotyped behavior, communication, and social behavior). The EVTEA-DI showed good reliability and convergent validity when compared to the Childhood Autism Rating Scale. Discriminative validity analysis resulted in an acceptable global sensitivity of 70% and a high specificity of 90%. The EVTEA-DI proved to be a valid screening tool in ASD assessment of the adult Spanish population with IDD.

Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.

OBJECTIVES: Neurotransmitter systems and neurotrophic factors can be considered strong candidates for autism spectrum disorder (ASD). The serotoninergic and dopaminergic systems are involved in neurotransmission, brain maturation and cortical organization, while neurotrophic factors (NTFs) participate in neurodevelopment, neuronal survival and synapses formation. We aimed to test the contribution of these candidate pathways to autism through a case-control association study of genes selected both for their role in central nervous system functions and for pathophysiological evidences. METHODS: The study sample consisted of 326 unrelated autistic patients and 350 gender-matched controls from Spain. We genotyped 369 tagSNPs to perform a case-control association study of 37 candidate genes. RESULTS: A significant association was obtained between the DDC gene and autism in the single-marker analysis (rs6592961, P = 0.00047). Haplotype-based analysis pinpointed a four-marker combination in this gene associated with the disorder (rs2329340C-rs2044859T-rs6592961A-rs11761683T, P = 4.988e-05). No significant results were obtained for the remaining genes after applying multiple testing corrections. However, the rs167771 marker in DRD3, associated with ASD in a previous study, displayed a nominal association in our analysis (P = 0.023). CONCLUSIONS: Our data suggest that common allelic variants in the DDC gene may be involved in autism susceptibility.