Well-Child Care Redesign: A Mixed Methods Analysis of Parent Experiences in the PARENT Trial.

BACKGROUND: Parent-focused Redesign for Encounters, Newborns to Toddlers (PARENT), is a well-child care (WCC) model that has demonstrated effectiveness in improving the receipt of comprehensive WCC services and reducing emergency department utilization for children aged 0 to 3 in low-income communities. PARENT relies on a health educator ("parent coach") to provide WCC services; it utilizes a Web-based previsit prioritization/screening tool (Well-Visit Planner) and an automated text message reminder/education service. We sought to assess intervention feasibility and acceptability among PARENT trial intervention participants. METHODS: Intervention parents completed a survey after a 12-month study period; a 26% random sample of them were invited to participate in a qualitative interview. Interviews were recorded, transcribed, and analyzed using the constant comparative method of qualitative analysis; survey responses were analyzed using bivariate methods. RESULTS: A total of 115 intervention participants completed the 12-month survey; 30 completed a qualitative interview. Nearly all intervention participants reported meeting with the coach, found her helpful, and would recommend continuing coach-led well visits (97-99%). Parents built trusting relationships with the coach and viewed her as a distinct and important part of their WCC team. They reported that PARENT well visits more efficiently used in-clinic time and were comprehensive and family centered. Most used the Well-Visit Planner (87%), and found it easy to use (94%); a minority completed it at home before the visit (18%). Sixty-two percent reported using the text message service; most reported it as a helpful source of new information and a reinforcement of information discussed during visits. CONCLUSIONS: A parent coach-led intervention for WCC for young children is a model of WCC delivery that is both acceptable and feasible to parents in a low-income urban population.

A Parent Coach Model for Well-Child Care Among Low-Income Children: A Randomized Controlled Trial.

OBJECTIVE: The goal of this study was to examine the effects of a new model for well-child care (WCC), the Parent-focused Redesign for Encounters, Newborns to Toddlers (PARENT), on WCC quality and health care utilization among low-income families. METHODS: PARENT includes 4 elements designed by using a stakeholder-engaged process: (1) a parent coach (ie, health educator) to provide anticipatory guidance, psychosocial screening and referral, and developmental/behavioral guidance and screening at each well-visit; (2) a Web-based tool for previsit screening; (3) an automated text message service to provide periodic, age-specific health messages to families; and (4) a brief, problem-focused encounter with the pediatric clinician. The Promoting Healthy Development Survey-PLUS was used to assess receipt of recommended WCC services at 12 months' postenrollment. Intervention effects were examined by using bivariate analyses. RESULTS: A total of 251 parents with a child aged ≤12 months were randomized to receive either the control (usual WCC) or the intervention (PARENT); 90% completed the 12-month assessment. Mean child age at enrollment was 4.5 months; 64% had an annual household income less than $20,000. Baseline characteristics for the intervention and control groups were similar. Intervention parents scored higher on all preventive care measures (anticipatory guidance, health information, psychosocial assessment, developmental screening, and parental developmental/behavioral concerns addressed) and experiences of care measures (family-centeredness, helpfulness, and overall rating of care). Fifty-two percent fewer intervention children had ≥2 emergency department visits over the 12-month period. There were no significant differences in WCC or sick visits/urgent care utilization. CONCLUSIONS: A parent coach-led model for WCC may improve the receipt of comprehensive WCC for low-income families, and it may potentially lead to cost savings by reducing emergency department utilization.

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.

Whole-genome oligonucleotide single-nucleotide polymorphism (oligo-SNP) arrays enable simultaneous interrogation of copy number variations (CNVs), copy neutral regions of homozygosity (ROH) and uniparental disomy (UPD). Structural variation in the human genome contributes significantly to genetic variation, and often has deleterious effects leading to disease causation. Co-occurrence of CNV and regions of allelic homozygosity in tandem involving the same chromosomal arm are extremely rare. Replication-based mechanisms such as microhomology-mediated break-induced replication (MMBIR) are recent models predicted to induce structural rearrangements and gene dosage aberrations; however, supportive evidence in humans for one-ended DNA break repair coupled with MMBIR giving rise to interstitial copy number gains and distal loss of heterozygosity has not been documented. We report on the identification and characterization of two cases with interstitial triplication followed by uniparental isodisomy (isoUPD) for remainder of the chromosomal arm. Case 1 has a triplication at 9q21.11-q21.33 and segmental paternal isoUPD for 9q21.33-qter, and presented with citrullinemia with a homozygous mutation in the argininosuccinate synthetase gene (ASS1 at 9q34.1). Case 2 has a triplication at 22q12.1-q12.2 and segmental maternal isoUPD 22q12.2-qter, and presented with hearing loss, mild dysmorphic features and bilateral iris coloboma. Interstitial triplication coupled with distal segmental isoUPD is a novel finding that provides human evidence for one-ended DNA break and replication-mediated repair. Both copy number gains and isoUPD may contribute to the phenotype. Significantly, these cases represent the first detailed genomic analysis that provides support for a MMBIR mechanism inducing copy number gains and segmental isoUPD in tandem.