Challenges, coping strategies, and unmet needs of families with a child with autism spectrum disorder in Goa, India.

Autism Spectrum Disorders (ASD) are increasingly recognized in developing countries like India. However, little is known about the experiences of parents raising a child with ASD. This study aimed to describe the experiences of families in Goa, India with a view to understanding the unmet needs of families raising a child with ASD. Twenty in-depth interviews and nine focus group discussions were carried out with families of children with ASD and key community stakeholders such as special educators, teachers, and parents of typically developing children. This qualitative data was triangulated to explore the experiences, life impact, and unmet needs of raising a child with ASD. Key findings suggest that raising a child with ASD puts a tremendous strain on families due to competing commitments, often leading to initial social withdrawal with later reintegration into social networks. Second, the impact is multidimensional, involving the personal sphere but also extending into the wider community with negative experiences of discrimination. Third, parents actively respond to these challenges through a range of approaches with help from existing and new social support networks and health care providers. Fourth, professionals from the health, education, and religious sectors have a low awareness of the unique needs of families living with ASD which leads to a considerable economic and emotional burden on families. Finally, as a consequence of these experiences, several unmet needs can be identified, notably for supporting increasingly isolated families and the limited access to multidisciplinary evidence-based services for ASD. Autism Res 2012, 5: 190-200. © 2012 International Society for Autism Research, Wiley Periodicals, Inc.

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.

The aetiology of autism is still largely unknown despite analyses from family and twin studies demonstrating substantial genetic role in the aetiology of the disorder. Data from linkage studies and analyses of chromosomal abnormalities identified 15q11-q13 as a region of particular aetiopathogenesis interest. We screened a set of markers spanning two known imprinted, maternally expressed genes, UBE3A and ATP10A, harboured in this candidate region. We replicated evidence of linkage disequilibrium (LD) at marker D15S122, located at the 5' end of UBE3A and originally reported by Nurmi et al. (2001). The potential role of UBE3A in our family-based association study is further supported by the association of two haplotypes that include one of the alleles of D15S122 and by the transmission disequilibrium test (TDT) evidence of the same allele in a parent of origin effect analysis. In a secondary analysis, we provided the first evidence of a significant association between first word delay and psychomotor regression with the 15q11-q13 region. Our data support a potential role of UBE3A in the complex pathogenic mechanisms of autism.

Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence.

In previous studies, we identified a locus for schizophrenia on 6q23.3 and proposed the Abelson helper integration site 1 (AHI1) as the candidate gene. AHI1 is expressed in the brain and plays a key role in neurodevelopment, is involved in Joubert syndrome, and has been recently associated with autism. The neurodevelopmental role of AHI1 fits with etiological hypotheses of schizophrenia. To definitively confirm our hypothesis, we searched for associations using a dense map of the region. Our strongest findings lay within the AHI1 gene: single-nucleotide polymorphisms rs11154801 and rs7759971 showed significant associations (P=6.23E-06; P=0.84E-06) and haplotypes gave P values in the 10E-8 to 10E-10 range. The second highest significant region maps close to AHI1 and includes the intergenic region between BC040979 and PDE7B (rs2038549 at P=9.70E-06 and rs1475069 at P=6.97E-06), and PDE7B and MAP7. Using a sample of Palestinian Arab families to confirm these findings, we found isolated signals. While these results did not retain their significance after correction for multiple testing, the joint analysis across the 2 samples supports the role of AHI1, despite the presence of heterogeneity. Given the hypothesis of positive selection of schizophrenia genes, we resequenced a 11 kb region within AHI1 in ethnically defined populations and found evidence for a selective sweep. Network analysis indicates 2 haplotype clades, with schizophrenia-susceptibility haplotypes clustering within the major clade. In conclusion, our data support the role of AHI1 as a susceptibility gene for schizophrenia and confirm it has been subjected to positive selection, also shedding light on new possible candidate genes, MAP7 and PDE7B.

Predictive factors of length of inpatient treatment in anorexia nervosa.

OBJECTIVE: To identify clinical variables influencing the length of stay (LOS) of inpatient treatment for anorexia nervosa (AN). METHOD: We analyzed structured clinical charts of 300 consecutive hospitalizations for AN in a specialized eating disorder unit. The sample included patients from 12 to 22 years old. Factors related to the patient and events occurring during the stay were investigated as possible predictors of LOS. RESULTS: Mean LOS was 135 days. The best model of linear regression revealed that the following factors were significantly related to LOS: duration of AN at admission, use of tube feeding during the stay, accomplishment of the therapeutic weight contract and presence of a comorbid disorder. CONCLUSIONS: The identification of factors influencing duration of stay, both at the outset and during the hospitalization, could help clinicians to optimize and individualize treatments, as well as increase patient and family compliance.

Impact, psychological sequelae and management of trauma affecting children and adolescents.

PURPOSE OF REVIEW: In this review we examine the most recent literature on the impact, psychological sequelae and management of trauma affecting children and adolescents. We focus on consequences of early traumatic events in childhood, adolescence and adulthood; mediating variables (risk and protective factors) intervention strategies and available treatments. RECENT FINDINGS: Increasingly often, mental health professionals are being asked to address the needs of children and adolescents who have been exposed to traumatic events, either as individuals or in groups. Studies on a wide range of age groups, populations and types of trauma revealed that traumatized children and adolescents are at high risk for developing a range of different behavioural, psychological and neurobiological problems. Social support may have a protective effect on the relationship between exposure to traumatic events and psychosocial symptoms. SUMMARY: Several recent studies analyze a wide range of early traumatic events that may be directly or indirectly experienced by youth. These studies raise many fundamental questions such as validity of current diagnostic criteria for post-traumatic stress disorder, comorbidity with anxiety, depressive disorders and childhood traumatic grief symptoms. Vulnerability and protective factors, mainly gender, age and social support are considered. A common problem in research into the impact of trauma on children is the presence of many limitations: studies are often retrospective, use self-report questionnaires and the results may not be generalizable (i.e. they are trauma or population specific). There is a lack of well designed studies, addressing in particular treatments for post-traumatic symptoms in children and adolescents.