Parental Burden and its Correlates in Families of Children with Autism Spectrum Disorder: A Multicentre Study with Two Comparison Groups.

BACKGROUND: The effects of having a child with Autism Spectrum Disorder (ASD) on parents are multifaceted and pervasive. While ample evidence has been provided that these families are under severe stress, there are still several knowledge gaps and unresolved questions. OBJECTIVE: This study aimed at quantifying the subjective and objective burden of ASD in mothers and fathers, and at improving the understanding of the interplay between parental burden, child's characteristics, and parents' coping resources and strategies. METHODS: The parents of 359 children/adolescents with ASD were compared to parents of age-matched patients with Down syndrome (N=145) and Type 1 diabetes mellitus (N=155). Child's clinical characteristics and parents' caregiving burden, psychological distress, coping resources and strategies were assessed. RESULTS: The parents of children with ASD reported higher objective and subjective burden, more frequent psychological distress, lower social support. Mothers reported greater subjective burden than fathers. Structural equation modeling showed that the most consistent positive and negative predictors of objective and subjective burden were ASD symptom severity and social support, respectively. Other positive predictors were engagement, distraction and disengagement coping, intellectual disability, and adaptive functioning. Other negative predictors were spiritual wellbeing and hardiness. Some effects were indirect through social support and coping strategies. CONCLUSION: This study confirmed that parents of children with ASD carry a huge caregiving burden, and added to our understanding of the factors associated with burden. The findings may help inform the design of effective interventions aimed at reducing burden among the parents of children with ASD.

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.

We report on a 10-year-old patient with childhood apraxia of speech (CAS) and mild dysmorphic features. Although multiple karyotypes were reported as normal, a bacterial artificial chromosome array comparative genomic hybridization revealed the presence of a de novo 14.8-Mb mosaic deletion of chromosome 7q31. The deleted region involved several genes, including FOXP2, which has been associated with CAS. Interestingly, the deletion reported here was observed in about 50% of cells, which is the first case of mosaicism in a 7q31 deletion. Despite the presence of the deletion in only 50% of cells, the phenotype of the patient was not milder than other published cases. To date, 6 cases with a deletion of 9.1-20 Mb involving the FOXP2 gene have been reported, suggesting a new contiguous gene deletion syndrome characterized mainly by CAS caused by haploinsufficiency of the genes encompassed in the 7q critical region. This report suggests that children found with a deletion involving the FOXP2 region should be evaluated for CAS and that analysis of the FOXP2 gene including array comparative genomic hybridization should be considered in selected patients with CAS. Mosaic deletions in this area may also be considered as causative of CAS.

Intensive intervention for children and adolescents with autism in a community setting in Italy: a single-group longitudinal study.

BACKGROUND: Previous studies have shown favourable results with intensive behavioural treatment for children with autism: evidence has emerged that treatment can be successfully implemented in a community setting and in adolescent participants. The aim of this study was to describe the 2-year adaptive functioning outcome of children and adolescents with autism treated intensively within the context of special autism centres, as well as to evaluate family satisfaction with the activity of the centres. METHODS: Sixty participants with autism (20 females and 40 males, aged between 4 and 18 years) attending the semi-residential rehabilitation centres for autism located in the Abruzzo region (Central Italy) were followed up and their adaptive functioning was evaluated both at baseline and after one and two years using the Vineland Adaptive Behaviour Scales (VABS). Parents' satisfaction with the service was evaluated using the Orbetello Satisfaction Scale for Children and Adolescent Mental Health. RESULTS: The increase in VABS scores was significant on several domains in the different gender and age categories. It is worth noting that male children had improved a great deal (roughly, an effect size >0.20) in the domains of communication, daily living and motor skills (effect sizes 0.34, 0.45 and 0.27 respectively) whereas in male adolescents, a notable increase in VABS scores was recorded in the domain of socialization only (effect size 0.23). On the other hand, adaptive behaviour in female children increased in the domains of socialization and motor skills (effect sizes 0.27 and 0.42 respectively) whereas in female adolescents, good results were achieved in the domains of daily living, socialization and motor skills (effect sizes 0.22, 0.26 and 0.20 respectively).The level of satisfaction of users of the service over time was found to be substantial, even when they had recently started the program. CONCLUSIONS: Our results support the implementation of special autism treatment community centres, based on a parent co-directed rehabilitative, intensive and early intervention. Further experimental research designed to document the effectiveness of services provided to children and adolescents with autism in the community is recommended.