Health-Related Quality of Life of Children with Asthma: Self and Parental Perceptions.

PURPOSE: This study aimed to explore whether age, gender, asthma severity, asthma duration, and exposure to parental smoking were associated with levels of asthma-specific health-related quality of life (HRQoL) among Greek children with asthma and to identify any differences between self- and proxy ratings of asthma-specific HRQoL. METHOD: One hundred and seventy-three (173) children with asthma (8-12 years old) and their parents completed the Pediatric Quality of Life Asthma Module self- and proxy measures. RESULTS: Asthma severity, age, and asthma duration explained almost half of the variance in asthma-specific HRQoL scores according to self- and proxy reports. Older male children with more severe asthma who were diagnosed for a longer period of time and had at least one smoking parent reported lower asthma-specific HRQoL according to self- and proxy reports. Although children and their parents seemed to agree in their views of asthma-specific HRQoL, there were significant differences in ratings of specific parameters of asthma-specific HRQoL. CONCLUSION: This study identifies the factors that account for a significant variance in asthma-specific HRQoL scores according to self- and proxy reports and is among the first to record the effect of parental smoking on children's and parents' perceptions of asthma-specific HRQoL.

Autism spectrum disorders: the quest for genetic syndromes.

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disabilities with various etiologies, but with a heritability estimate of more than 90%. Although the strong correlation between autism and genetic factors has been long established, the exact genetic background of ASD remains unclear. A number of genetic syndromes manifest ASD at higher than expected frequencies compared to the general population. These syndromes account for more than 10% of all ASD cases and include tuberous sclerosis, fragile X, Down, neurofibromatosis, Angelman, Prader-Willi, Williams, Duchenne, etc. Clinicians are increasingly required to recognize genetic disorders in individuals with ASD, in terms of providing proper care and prognosis to the patient, as well as genetic counseling to the family. Vice versa, it is equally essential to identify ASD in patients with genetic syndromes, in order to ensure correct management and appropriate educational placement. During investigation of genetic syndromes, a number of issues emerge: impact of intellectual disability in ASD diagnoses, identification of autistic subphenotypes and differences from idiopathic autism, validity of assessment tools designed for idiopathic autism, possible mechanisms for the association with ASD, etc. Findings from the study of genetic syndromes are incorporated into the ongoing research on autism etiology and pathogenesis; different syndromes converge upon common biological backgrounds (such as disrupted molecular pathways and brain circuitries), which probably account for their comorbidity with autism. This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD.