Massachusetts Child Psychiatry Access Project (MCPAP) University of Massachusetts (UMass) Parent Satisfaction Study

Objective: To evaluate parents’ experience with Massachusetts Child Psychiatry Access Project (MCPAP), a Consultation Liaison model, aimed at improving access to child psychiatry for primary care (consultations to primary care providers are done either by phone contact and/or by a direct evaluation of the child by a MCPAP clinician). Methods: IRB approved Parent Satisfaction Questionnaire (PSQ) sent to families referred to the MCPAP between 2/2008-8/2008, identified using the University of Massachusetts Medical Center (UMMHC) database. Results: 360 initial and 348 follow up PSQ were mailed, and 158 PSQ returned, defining a response rate of 46.2%. 78.9% of parents agreed or strongly agreed that the services provided were offered in a timely manner. 74.9% of parents agreed or strongly agreed with the statement that their child’s issues were understood. 50% agreed or strongly agreed that their child’s situation improved following their contact with the services. 74.2% agreed or strongly agreed that the quality of the service they received was satisfying. 69% agreed or strongly agreed that the service met their family’s need. 58.6% of parents agreed or strongly agreed that the service helped them deal with their issues more effectively. 67.3% agreed or strongly agreed that they were better satisfied with the service compared to previous contact with mental health providers for their child. Conclusions: PSQ suggest high satisfaction rates with MCPAP. Notable are the high rates of parents reporting they felt prepared, heard and understood. Parents were also highly satisfied with the face to face contact they had with MCPAP clinician, when that contact had occurred. Parents reported being less satisfied with regards to follow up appointments in the community and reaching their goals for their child. The results show high parental satisfaction with MCPAP evaluation process, but also highlight the need for appropriate mental health follow up in the community in order to help children and families reach their goals. Presented at the American Academy of Child & Adolescent Psychiatry (AACAP) Annual Meeting, October 29, 2009

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusions: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.Peer reviewe

Targeted child psychiatric services: a new model of pediatric primary clinician--child psychiatry collaborative care

Between 15% and 25% of children and adolescents seen in pediatric primary care have a behavioral health disorder with significant psychopathology, high functional impairment, and frequent psychiatric diagnostic comorbidity. Because child psychiatry services are frequently unavailable, primary care clinicians are frequently left managing these children without access to child psychiatry consultation. We describe Targeted Child Psychiatric Services (TCPS), a new model of pediatric primary clinician-child psychiatry collaborative care, and describe program utilization and characteristics of children referred over the first 18 months of the program using a retrospective chart review. The TCPS model can serve a large number of pediatric primary care practices and provide collaborative help with the evaluation and treatment of complex attention deficit hyperactivity disorder, depression, anxiety disorders, and pediatric psychopharmacology